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Artigo de periodico
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment (2017)
Wiessner, Manuela; Roos, Andreas; Munn, Christopher J.; Viswanathan, Ranjith; Whyte, Tamieka; Cox, Dan; Schoser, Benedikt; Sewry, Caroline; Roper, Helen; Phadke, Rahul; Bettolo, Chiara Marini; Barresi, Rita; Charlton, Richard; Bönnemann, Carsten G.; Abath Neto, Osório; Reed, Umbertina C.; Zanoteli, Edmar; Moreno, Cristiane Araújo Martins; Ertl-Wagner, Birgit; Stucka, Rolf; De Goede, Christian; Silva, Tamiris Borges da; Hathazi, Denisa; Dell’Aica, Margherita; Zahedi, René P.; Thiele, Simone; Müller, Juliane; Kingston, Helen; Müller, Susanna; Curtis, Elizabeth; Walter, Maggie C.; Strom, Tim M.; Straub, Volker; Bushby, Kate; Muntoni, Francesco; Swan, Laura E.; Lochmüller, Hanns; Senderek, Jan
Source: American Journal of Human Genetics. Unidade: FM
Subjects: DISTROFIA MUSCULAR, COMPROMETIMENTO COGNITIVO LEVE, MUTAÇÃO, ENZIMAS
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ABNT
WIESSNER, Manuela et al. Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. American Journal of Human Genetics, v. 100, n. 3, p. 523-536, 2017Tradução . . Disponível em: https://doi.org/10.1016/j.ajhg.2017.01.024. Acesso em: 15 out. 2025.
APA
Wiessner, M., Roos, A., Munn, C. J., Viswanathan, R., Whyte, T., Cox, D., et al. (2017). Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. American Journal of Human Genetics, 100( 3), 523-536. doi:10.1016/j.ajhg.2017.01.024
NLM
Wiessner M, Roos A, Munn CJ, Viswanathan R, Whyte T, Cox D, Schoser B, Sewry C, Roper H, Phadke R, Bettolo CM, Barresi R, Charlton R, Bönnemann CG, Abath Neto O, Reed UC, Zanoteli E, Moreno CAM, Ertl-Wagner B, Stucka R, De Goede C, Silva TB da, Hathazi D, Dell’Aica M, Zahedi RP, Thiele S, Müller J, Kingston H, Müller S, Curtis E, Walter MC, Strom TM, Straub V, Bushby K, Muntoni F, Swan LE, Lochmüller H, Senderek J. Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment [Internet]. American Journal of Human Genetics. 2017 ; 100( 3): 523-536.[citado 2025 out. 15 ] Available from: https://doi.org/10.1016/j.ajhg.2017.01.024
Vancouver
Wiessner M, Roos A, Munn CJ, Viswanathan R, Whyte T, Cox D, Schoser B, Sewry C, Roper H, Phadke R, Bettolo CM, Barresi R, Charlton R, Bönnemann CG, Abath Neto O, Reed UC, Zanoteli E, Moreno CAM, Ertl-Wagner B, Stucka R, De Goede C, Silva TB da, Hathazi D, Dell’Aica M, Zahedi RP, Thiele S, Müller J, Kingston H, Müller S, Curtis E, Walter MC, Strom TM, Straub V, Bushby K, Muntoni F, Swan LE, Lochmüller H, Senderek J. Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment [Internet]. American Journal of Human Genetics. 2017 ; 100( 3): 523-536.[citado 2025 out. 15 ] Available from: https://doi.org/10.1016/j.ajhg.2017.01.024
Artigo de periodico
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia (2015)
Gordon, Christopher T; Weaver, K. Nicole; Zechi-Ceide, Roseli Maria ; Madsen, Erik C.; Tavares, Andre L. P.; Oufadem, Myriam; Kurihara, Yukiko; Adameyko, Igor; Picard, Arnaud ; Breton, Sylvain; Pierrot, Sébastien; Biosse-Duplan, Martin; Voisin, Norine; Masson, Cécile; Bole-Feysot, Christine; Nitschké, Patrick; Delrue, Marie-Ange; Lacombe, Didier; Guion-Almeida, Maria Leine; Moura, Priscila Padilha; Garib, Daniela Gamba ; Munnich, Arnold; Ernfors, Patrik; Hufnagel, Robert B.; Hopkin, Robert J.
Source: American Journal of Human Genetics. Unidades: HRAC, FOB
Subjects: ALOPECIA, DISOSTOSE MANDIBULOFACIAL, MUTAÇÃO GENÉTICA, TOMOGRAFIA COMPUTADORIZADA POR RAIOS X
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ABNT
GORDON, Christopher T et al. Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia. American Journal of Human Genetics, v. 96, n. 4, p. 519-531, 2015Tradução . . Disponível em: https://doi.org/10.1016/j.ajhg.2015.01.015. Acesso em: 15 out. 2025.
APA
Gordon, C. T., Weaver, K. N., Zechi-Ceide, R. M., Madsen, E. C., Tavares, A. L. P., Oufadem, M., et al. (2015). Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia. American Journal of Human Genetics, 96( 4), 519-531. doi:10.1016/j.ajhg.2015.01.015
NLM
Gordon CT, Weaver KN, Zechi-Ceide RM, Madsen EC, Tavares ALP, Oufadem M, Kurihara Y, Adameyko I, Picard A, Breton S, Pierrot S, Biosse-Duplan M, Voisin N, Masson C, Bole-Feysot C, Nitschké P, Delrue M-A, Lacombe D, Guion-Almeida ML, Moura PP, Garib DG, Munnich A, Ernfors P, Hufnagel RB, Hopkin RJ. Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia [Internet]. American Journal of Human Genetics. 2015 ; 96( 4): 519-531.[citado 2025 out. 15 ] Available from: https://doi.org/10.1016/j.ajhg.2015.01.015
Vancouver
Gordon CT, Weaver KN, Zechi-Ceide RM, Madsen EC, Tavares ALP, Oufadem M, Kurihara Y, Adameyko I, Picard A, Breton S, Pierrot S, Biosse-Duplan M, Voisin N, Masson C, Bole-Feysot C, Nitschké P, Delrue M-A, Lacombe D, Guion-Almeida ML, Moura PP, Garib DG, Munnich A, Ernfors P, Hufnagel RB, Hopkin RJ. Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia [Internet]. American Journal of Human Genetics. 2015 ; 96( 4): 519-531.[citado 2025 out. 15 ] Available from: https://doi.org/10.1016/j.ajhg.2015.01.015
Artigo de periodico
Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and barber-say syndromes (2015)
Marchegiani, Shannon; Davis, Taylor; Tessadori, Federico; Haaften, Gijs van; Brancati, Francesco; Hoischen, Alexander; Huang, Haigen; Valkanas, Elise; Pusey, Barbara; Schanze, Denny; Venselaar, Hanka; Vulto-van Silfhout, Anneke T; Wolfe, Lynne A; Tifft, Cynthia J; Zerfas, Patricia M; Zambruno, Giovanna; Kariminejad, Ariana; Sabbagh-Kermani, Farahnaz; Lee, Janice; Tsokos, Maria G; Lee, Chyi-Chia R; Ferraz, Victor Evangelista de Faria; Silva, Eduarda Morgana da; Stevens, Cathy A; Roche, Nathalie; Bartsch, Oliver; Farndon, Peter; Bermejo-Sanchez, Eva; Brooks, Brian P; Maduro, Valerie; Dallapiccola, Bruno; Ramos, Feliciano J; Chung, Hon-Yin Brian; Le Caignec, Cédric; Martins, Fabiana; Jacyk, Witold K; Mazzanti, Laura; Brunner, Han G; Bakkers, Jeroen; Lin, Shuo; Malicdan, May Christine V; Boerkoel, Cornelius F; Gahl, William A; Vries, Bert B. A. de; Mieke M. van Haelst; Zenker, Martin; Markello, Thomas C
Source: American Journal of Human Genetics. Unidade: FMRP
Subjects: MACROSTOMIA, DISPLASIA ECTODÉRMICA, GENÉTICA
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ABNT
MARCHEGIANI, Shannon et al. Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and barber-say syndromes. American Journal of Human Genetics, v. 97, n. 1, p. 99-110, 2015Tradução . . Disponível em: https://doi.org/10.1016/j.ajhg.2015.05.017. Acesso em: 15 out. 2025.
APA
Marchegiani, S., Davis, T., Tessadori, F., Haaften, G. van, Brancati, F., Hoischen, A., et al. (2015). Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and barber-say syndromes. American Journal of Human Genetics, 97( 1), 99-110. doi:10.1016/j.ajhg.2015.05.017
NLM
Marchegiani S, Davis T, Tessadori F, Haaften G van, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee C-CR, Ferraz VE de F, Silva EM da, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung H-YB, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MCV, Boerkoel CF, Gahl WA, Vries BBA de, Mieke M. van Haelst, Zenker M, Markello TC. Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and barber-say syndromes [Internet]. American Journal of Human Genetics. 2015 ; 97( 1): 99-110.[citado 2025 out. 15 ] Available from: https://doi.org/10.1016/j.ajhg.2015.05.017
Vancouver
Marchegiani S, Davis T, Tessadori F, Haaften G van, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee C-CR, Ferraz VE de F, Silva EM da, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung H-YB, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MCV, Boerkoel CF, Gahl WA, Vries BBA de, Mieke M. van Haelst, Zenker M, Markello TC. Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and barber-say syndromes [Internet]. American Journal of Human Genetics. 2015 ; 97( 1): 99-110.[citado 2025 out. 15 ] Available from: https://doi.org/10.1016/j.ajhg.2015.05.017
Artigo de periodico
Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy (2014)
Yamamoto, Guilherme L.; Baratela, Wagner A. R.; Almeida, Tatiana F.; Lazar, Monize; Afonso, Clara L.; Oyamada, Maria K.; Suzuki, Lisa; Oliveira, Luiz A. N.; Ramos, Ester Silveira; Kim, Chong Ae; Passos-Bueno, Maria Rita ; Bertola, Débora Romeo
Source: American Journal of Human Genetics. Unidades: FMRP, FM, IB
Subjects: OFTALMOLOGIA (MÉTODOS), DOENÇAS RETINIANAS (GENÉTICA)
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ABNT
YAMAMOTO, Guilherme L. et al. Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy. American Journal of Human Genetics, v. 94, n. 1, p. 113-119, 2014Tradução . . Disponível em: https://doi.org/10.1016/j.ajhg.2013.11.022. Acesso em: 15 out. 2025.
APA
Yamamoto, G. L., Baratela, W. A. R., Almeida, T. F., Lazar, M., Afonso, C. L., Oyamada, M. K., et al. (2014). Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy. American Journal of Human Genetics, 94( 1), 113-119. doi:10.1016/j.ajhg.2013.11.022
NLM
Yamamoto GL, Baratela WAR, Almeida TF, Lazar M, Afonso CL, Oyamada MK, Suzuki L, Oliveira LAN, Ramos ES, Kim CA, Passos-Bueno MR, Bertola DR. Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy [Internet]. American Journal of Human Genetics. 2014 ; 94( 1): 113-119.[citado 2025 out. 15 ] Available from: https://doi.org/10.1016/j.ajhg.2013.11.022
Vancouver
Yamamoto GL, Baratela WAR, Almeida TF, Lazar M, Afonso CL, Oyamada MK, Suzuki L, Oliveira LAN, Ramos ES, Kim CA, Passos-Bueno MR, Bertola DR. Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy [Internet]. American Journal of Human Genetics. 2014 ; 94( 1): 113-119.[citado 2025 out. 15 ] Available from: https://doi.org/10.1016/j.ajhg.2013.11.022
Artigo de periodico
Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes (2014)
Carvalho, Claudia M.B.; Vasanth, Shivakumar; Shinawi, Marwan; Russell, Chad; Ramocki, Melissa B.; Brown, Chester W.; Graakjaer, Jesper; Skytte, Anne-Bine; Patel, Gayle S.; Immken, LaDonna; Aleck, Kyrieckos; Lim, Cynthia; Cheung, Sau Wai; Rosenberg, Carla ; Katsanis, Nicholas; Lupski, James R.
Source: American Journal of Human Genetics. Unidade: IB
Subjects: GENES, MUTAÇÃO GENÉTICA
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ABNT
CARVALHO, Claudia M.B. et al. Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes. American Journal of Human Genetics, v. 95, p. 565-578, 2014Tradução . . Disponível em: https://doi.org/10.1016/j.ajhg.2014.10.006. Acesso em: 15 out. 2025.
APA
Carvalho, C. M. B., Vasanth, S., Shinawi, M., Russell, C., Ramocki, M. B., Brown, C. W., et al. (2014). Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes. American Journal of Human Genetics, 95, 565-578. doi:10.1016/j.ajhg.2014.10.006
NLM
Carvalho CMB, Vasanth S, Shinawi M, Russell C, Ramocki MB, Brown CW, Graakjaer J, Skytte A-B, Patel GS, Immken LD, Aleck K, Lim C, Cheung SW, Rosenberg C, Katsanis N, Lupski JR. Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes [Internet]. American Journal of Human Genetics. 2014 ; 95 565-578.[citado 2025 out. 15 ] Available from: https://doi.org/10.1016/j.ajhg.2014.10.006
Vancouver
Carvalho CMB, Vasanth S, Shinawi M, Russell C, Ramocki MB, Brown CW, Graakjaer J, Skytte A-B, Patel GS, Immken LD, Aleck K, Lim C, Cheung SW, Rosenberg C, Katsanis N, Lupski JR. Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes [Internet]. American Journal of Human Genetics. 2014 ; 95 565-578.[citado 2025 out. 15 ] Available from: https://doi.org/10.1016/j.ajhg.2014.10.006
Artigo de periodico
A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects (2014)
Favaro, Francine Pinheiro; Alvizi, Lucas ; Zechi-Ceide, Roseli Maria; Bertola, Débora Romeo; Félix, Têmis Maria ; Souza, Josiane de; Raskin, Salmo; Twigg, Stephen R. F; Weiner, Andrea M. J; Armas, Pablo; Margarit, Ezequiel; Calcaterra, Nora B; Andersen, Gregers R; McGowan, Simon J; Wilkie, Andrew O. M; Richieri-Costa, Antonio; Almeida, Maria Leine Guion de; Passos-Bueno, Maria Rita
Source: American Journal of Human Genetics. Unidades: HRAC, IB
Subjects: ANORMALIDADES CRANIOFACIAIS, MUTAÇÃO GENÉTICA, MALFORMAÇÕES, FISSURA PALATINA, MODELOS ANIMAIS, GENOMAS
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ABNT
FAVARO, Francine Pinheiro et al. A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. American Journal of Human Genetics, v. 94, n. Ja 2014, p. 120-128, 2014Tradução . . Acesso em: 15 out. 2025.
APA
Favaro, F. P., Alvizi, L., Zechi-Ceide, R. M., Bertola, D. R., Félix, T. M., Souza, J. de, et al. (2014). A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. American Journal of Human Genetics, 94( Ja 2014), 120-128.
NLM
Favaro FP, Alvizi L, Zechi-Ceide RM, Bertola DR, Félix TM, Souza J de, Raskin S, Twigg SRF, Weiner AMJ, Armas P, Margarit E, Calcaterra NB, Andersen GR, McGowan SJ, Wilkie AOM, Richieri-Costa A, Almeida MLG de, Passos-Bueno MR. A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. American Journal of Human Genetics. 2014 ; 94( Ja 2014): 120-128.[citado 2025 out. 15 ]
Vancouver
Favaro FP, Alvizi L, Zechi-Ceide RM, Bertola DR, Félix TM, Souza J de, Raskin S, Twigg SRF, Weiner AMJ, Armas P, Margarit E, Calcaterra NB, Andersen GR, McGowan SJ, Wilkie AOM, Richieri-Costa A, Almeida MLG de, Passos-Bueno MR. A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. American Journal of Human Genetics. 2014 ; 94( Ja 2014): 120-128.[citado 2025 out. 15 ]
Artigo de periodico
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears (2013)
Gordon, Christopher J; Petit, Florence; Kroisel, Peter Michael; Jakobsen, Linda; Zechi-Ceide, Roseli Maria ; Oufadem, Myriam; Bole-Feysot, C; Pruvost, Solenn; Masson, Cécile; Tores, Frédéric; Hieu, Thierry; Nitschké, Patrick; Lindholm, Pernille; Pellerin, Philippe; Guion-Almeida, Maria Leine; Nakata, Nancy Mizue Kokitsu ; Pittoli, Siulan Vendramini Paulovich ; Munnich, Arnold; Lyonnet, Stanislas; Holder-Espinasse, Muriel; Amiel, Jeanne
Source: American Journal of Human Genetics. Unidade: HRAC
Subjects: OTOPATIAS, FENÓTIPOS, ENDOTELINAS
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ABNT
GORDON, Christopher J et al. Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. American Journal of Human Genetics, v. 93, n. 6, p. 1118-1125, 2013Tradução . . Disponível em: https://doi.org/10.1016/j.ajhg.2013.10.023. Acesso em: 15 out. 2025.
APA
Gordon, C. J., Petit, F., Kroisel, P. M., Jakobsen, L., Zechi-Ceide, R. M., Oufadem, M., et al. (2013). Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. American Journal of Human Genetics, 93( 6), 1118-1125. doi:10.1016/j.ajhg.2013.10.023
NLM
Gordon CJ, Petit F, Kroisel PM, Jakobsen L, Zechi-Ceide RM, Oufadem M, Bole-Feysot C, Pruvost S, Masson C, Tores F, Hieu T, Nitschké P, Lindholm P, Pellerin P, Guion-Almeida ML, Nakata NMK, Pittoli SVP, Munnich A, Lyonnet S, Holder-Espinasse M, Amiel J. Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears [Internet]. American Journal of Human Genetics. 2013 ; 93( 6): 1118-1125.[citado 2025 out. 15 ] Available from: https://doi.org/10.1016/j.ajhg.2013.10.023
Vancouver
Gordon CJ, Petit F, Kroisel PM, Jakobsen L, Zechi-Ceide RM, Oufadem M, Bole-Feysot C, Pruvost S, Masson C, Tores F, Hieu T, Nitschké P, Lindholm P, Pellerin P, Guion-Almeida ML, Nakata NMK, Pittoli SVP, Munnich A, Lyonnet S, Holder-Espinasse M, Amiel J. Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears [Internet]. American Journal of Human Genetics. 2013 ; 93( 6): 1118-1125.[citado 2025 out. 15 ] Available from: https://doi.org/10.1016/j.ajhg.2013.10.023
Artigo de periodico
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral Muscular Dystrophy (2012)
Scionti, Isabella; Greco, Francesca; Ricci, Giulia; Govi, Monica; Arashiro, Patrícia; Vercelli, Liliana; Berardinelli, Angela; Angelini, Corrado; Antonini, Giovanni; Cao, Michelangelo; Muzio, Antonio Di; Moggio, Maurizio; Morandi, Lucia; Ricci, Enzo; Rodolico, Carmelo; Ruggiero, Lucia; Santoro, Lucio; Siciliano, Gabriele; Tomelleri, Giuliano; Trevisan, Carlo Pietro; Galluzzi, Giuliana; Wright, Woodring; Zatz, Mayana ; Tupler, Rosella
Source: American Journal of Human Genetics. Unidade: IB
Subjects: DISTROFIA MUSCULAR, DOENÇAS GENÉTICAS, GENÉTICA MOLECULAR
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ABNT
SCIONTI, Isabella et al. Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral Muscular Dystrophy. American Journal of Human Genetics, v. 90, n. 4, p. 628-635, 2012Tradução . . Disponível em: https://doi.org/10.1016/j.ajhg.2012.02.019. Acesso em: 15 out. 2025.
APA
Scionti, I., Greco, F., Ricci, G., Govi, M., Arashiro, P., Vercelli, L., et al. (2012). Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral Muscular Dystrophy. American Journal of Human Genetics, 90( 4), 628-635. doi:10.1016/j.ajhg.2012.02.019
NLM
Scionti I, Greco F, Ricci G, Govi M, Arashiro P, Vercelli L, Berardinelli A, Angelini C, Antonini G, Cao M, Muzio AD, Moggio M, Morandi L, Ricci E, Rodolico C, Ruggiero L, Santoro L, Siciliano G, Tomelleri G, Trevisan CP, Galluzzi G, Wright W, Zatz M, Tupler R. Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral Muscular Dystrophy [Internet]. American Journal of Human Genetics. 2012 ; 90( 4): 628-635.[citado 2025 out. 15 ] Available from: https://doi.org/10.1016/j.ajhg.2012.02.019
Vancouver
Scionti I, Greco F, Ricci G, Govi M, Arashiro P, Vercelli L, Berardinelli A, Angelini C, Antonini G, Cao M, Muzio AD, Moggio M, Morandi L, Ricci E, Rodolico C, Ruggiero L, Santoro L, Siciliano G, Tomelleri G, Trevisan CP, Galluzzi G, Wright W, Zatz M, Tupler R. Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral Muscular Dystrophy [Internet]. American Journal of Human Genetics. 2012 ; 90( 4): 628-635.[citado 2025 out. 15 ] Available from: https://doi.org/10.1016/j.ajhg.2012.02.019
Artigo de periodico
Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation (2012)
Garcia-Diaz, Beatriz; Barros, Mário Henrique de ; Sanna-Cherchi, Simone; Emmanuele, Valentina; Akman, Hasan O.; Ferreiro-Barros, Claudia C.; Horvath, Rita; Tadesse, Saba; El Gharaby, Nader; Di Mauro, Salvatore; De Vivo, Darryl C.; Shokr, Aly; Hirano, Michio; Quinzii, Catarina M.
Source: American Journal of Human Genetics. Unidade: ICB
Assunto: MICROBIOLOGIA
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ABNT
GARCIA-DIAZ, Beatriz et al. Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation. American Journal of Human Genetics, v. 91, n. 4, p. 729-736, 2012Tradução . . Disponível em: https://doi.org/10.1016/j.ajhg.2012.08.019. Acesso em: 15 out. 2025.
APA
Garcia-Diaz, B., Barros, M. H. de, Sanna-Cherchi, S., Emmanuele, V., Akman, H. O., Ferreiro-Barros, C. C., et al. (2012). Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation. American Journal of Human Genetics, 91( 4), 729-736. doi:10.1016/j.ajhg.2012.08.019
NLM
Garcia-Diaz B, Barros MH de, Sanna-Cherchi S, Emmanuele V, Akman HO, Ferreiro-Barros CC, Horvath R, Tadesse S, El Gharaby N, Di Mauro S, De Vivo DC, Shokr A, Hirano M, Quinzii CM. Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation [Internet]. American Journal of Human Genetics. 2012 ; 91( 4): 729-736.[citado 2025 out. 15 ] Available from: https://doi.org/10.1016/j.ajhg.2012.08.019
Vancouver
Garcia-Diaz B, Barros MH de, Sanna-Cherchi S, Emmanuele V, Akman HO, Ferreiro-Barros CC, Horvath R, Tadesse S, El Gharaby N, Di Mauro S, De Vivo DC, Shokr A, Hirano M, Quinzii CM. Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation [Internet]. American Journal of Human Genetics. 2012 ; 91( 4): 729-736.[citado 2025 out. 15 ] Available from: https://doi.org/10.1016/j.ajhg.2012.08.019
Artigo de periodico
Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting (2011)
Saadi, Irfan; Alkuraya, Fowzan S.; Gisselbrecht, Stephen S.; Goessling, Wolfram; Cavallesco, Resy; Turbe-Doan, Annick; Petrin, Aline L; Harris, James; Siddiqui, Ursela; Grix Junior, Arthur W.; Hove, Hanne D.; Leboulch, Philippe; Glover, Thomas W.; Morton, Cynthia C; Richieri-Costa, Antonio ; Murray, Jeffrey C; Erickson, Robert P.; Maas, Richard L.
Source: American Journal of Human Genetics. Unidade: HRAC
Subjects: DEFICIÊNCIA DE PROTEÍNA, ANORMALIDADES CRANIOFACIAIS, FENÓTIPOS, DISOSTOSE CRÂNIOFACIAL, FISSURA PALATINA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SAADI, Irfan et al. Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting. American Journal of Human Genetics, v. 89, p. 44-55, 2011Tradução . . Disponível em: https://doi.org/10.1016/j.ajhg.2011.05.023. Acesso em: 15 out. 2025.
APA
Saadi, I., Alkuraya, F. S., Gisselbrecht, S. S., Goessling, W., Cavallesco, R., Turbe-Doan, A., et al. (2011). Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting. American Journal of Human Genetics, 89, 44-55. doi:10.1016/j.ajhg.2011.05.023
NLM
Saadi I, Alkuraya FS, Gisselbrecht SS, Goessling W, Cavallesco R, Turbe-Doan A, Petrin AL, Harris J, Siddiqui U, Grix Junior AW, Hove HD, Leboulch P, Glover TW, Morton CC, Richieri-Costa A, Murray JC, Erickson RP, Maas RL. Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting [Internet]. American Journal of Human Genetics. 2011 ; 89 44-55.[citado 2025 out. 15 ] Available from: https://doi.org/10.1016/j.ajhg.2011.05.023
Vancouver
Saadi I, Alkuraya FS, Gisselbrecht SS, Goessling W, Cavallesco R, Turbe-Doan A, Petrin AL, Harris J, Siddiqui U, Grix Junior AW, Hove HD, Leboulch P, Glover TW, Morton CC, Richieri-Costa A, Murray JC, Erickson RP, Maas RL. Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting [Internet]. American Journal of Human Genetics. 2011 ; 89 44-55.[citado 2025 out. 15 ] Available from: https://doi.org/10.1016/j.ajhg.2011.05.023
Artigo de periodico
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia (2007)
Valdmanis, Paul N.; Meijer, Inge A.; Reynolds, Annie; Lei, Adrienne; MacLeod, Patrick; Schlesinger, David; Zatz, Mayana ; Reid, Evan; Dion, Patrick A.; Drapeau, Pierre; Rouleau, Guy A.
Source: American Journal of Human Genetics. Unidade: IB
Subjects: DOENÇAS NEURODEGENERATIVAS, DOENÇAS HEREDITÁRIAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
VALDMANIS, Paul N. et al. Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. American Journal of Human Genetics, v. 80, n. 1, p. 152-161, 2007Tradução . . Acesso em: 15 out. 2025.
APA
Valdmanis, P. N., Meijer, I. A., Reynolds, A., Lei, A., MacLeod, P., Schlesinger, D., et al. (2007). Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. American Journal of Human Genetics, 80( 1), 152-161.
NLM
Valdmanis PN, Meijer IA, Reynolds A, Lei A, MacLeod P, Schlesinger D, Zatz M, Reid E, Dion PA, Drapeau P, Rouleau GA. Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. American Journal of Human Genetics. 2007 ; 80( 1): 152-161.[citado 2025 out. 15 ]
Vancouver
Valdmanis PN, Meijer IA, Reynolds A, Lei A, MacLeod P, Schlesinger D, Zatz M, Reid E, Dion PA, Drapeau P, Rouleau GA. Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. American Journal of Human Genetics. 2007 ; 80( 1): 152-161.[citado 2025 out. 15 ]
Artigo de periodico
RAB23 mutations in carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity (2007)
Jenkins, Dagan; Seelow, Dominik; Jehee, Fernanda Sarquis; Perlyn, Chad A.; Alonso, Luís Garcia; Bueno, Daniela Franco; Donnai, Dian; Josifiova, Dragana; Mathijssen, Irene M. J.; Morton, Jenny E. V.; Orstavik, Karen Helene; Sweeney, Elizabeth; Wall, Steven A.; Marsh, Jeffrey L.; Nürnberg, Peter; Passos-Bueno, Maria Rita ; Wilkie, Andrew O. M.
Source: American Journal of Human Genetics. Unidade: IB
Subjects: CRANIOSSINOSTOSE, DOENÇAS HEREDITÁRIAS, ANORMALIDADES CRANIOFACIAIS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
JENKINS, Dagan et al. RAB23 mutations in carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. American Journal of Human Genetics, v. 80, n. ju 2007, p. 1162-1170, 2007Tradução . . Acesso em: 15 out. 2025.
APA
Jenkins, D., Seelow, D., Jehee, F. S., Perlyn, C. A., Alonso, L. G., Bueno, D. F., et al. (2007). RAB23 mutations in carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. American Journal of Human Genetics, 80( ju 2007), 1162-1170.
NLM
Jenkins D, Seelow D, Jehee FS, Perlyn CA, Alonso LG, Bueno DF, Donnai D, Josifiova D, Mathijssen IMJ, Morton JEV, Orstavik KH, Sweeney E, Wall SA, Marsh JL, Nürnberg P, Passos-Bueno MR, Wilkie AOM. RAB23 mutations in carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. American Journal of Human Genetics. 2007 ; 80( ju 2007): 1162-1170.[citado 2025 out. 15 ]
Vancouver
Jenkins D, Seelow D, Jehee FS, Perlyn CA, Alonso LG, Bueno DF, Donnai D, Josifiova D, Mathijssen IMJ, Morton JEV, Orstavik KH, Sweeney E, Wall SA, Marsh JL, Nürnberg P, Passos-Bueno MR, Wilkie AOM. RAB23 mutations in carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. American Journal of Human Genetics. 2007 ; 80( ju 2007): 1162-1170.[citado 2025 out. 15 ]
Artigo de periodico
Red-green color vision impairment in Duchenne Muscular Dystrophy (2007)
Costa, Marcelo Fernandes da ; Oliveira, André Gustavo Fernandes; Feitosa-Santana, Claudia; Zatz, Mayana ; Ventura, Dora Selma Fix
Source: American Journal of Human Genetics. Unidades: IB, IP
Subjects: DISTROFIA MUSCULAR, MUTAÇÃO GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
COSTA, Marcelo Fernandes da et al. Red-green color vision impairment in Duchenne Muscular Dystrophy. American Journal of Human Genetics, v. 80, n. 6, p. 1064-1075, 2007Tradução . . Acesso em: 15 out. 2025.
APA
Costa, M. F. da, Oliveira, A. G. F., Feitosa-Santana, C., Zatz, M., & Ventura, D. S. F. (2007). Red-green color vision impairment in Duchenne Muscular Dystrophy. American Journal of Human Genetics, 80( 6), 1064-1075.
NLM
Costa MF da, Oliveira AGF, Feitosa-Santana C, Zatz M, Ventura DSF. Red-green color vision impairment in Duchenne Muscular Dystrophy. American Journal of Human Genetics. 2007 ; 80( 6): 1064-1075.[citado 2025 out. 15 ]
Vancouver
Costa MF da, Oliveira AGF, Feitosa-Santana C, Zatz M, Ventura DSF. Red-green color vision impairment in Duchenne Muscular Dystrophy. American Journal of Human Genetics. 2007 ; 80( 6): 1064-1075.[citado 2025 out. 15 ]
Artigo de periodico
UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome (2006)
Nascimento, Rafaela Maria Pessutti; Otto, Paulo A ; Brouwer, Arjan P. M.; Vianna-Morgante, Angela M
Source: American Journal of Human Genetics. Unidade: IB
Subjects: DOENÇAS GENÉTICAS, RETARDO MENTAL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
NASCIMENTO, Rafaela Maria Pessutti et al. UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. American Journal of Human Genetics, n. 3, p. 549-555, 2006Tradução . . Acesso em: 15 out. 2025.
APA
Nascimento, R. M. P., Otto, P. A., Brouwer, A. P. M., & Vianna-Morgante, A. M. (2006). UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. American Journal of Human Genetics, ( 3), 549-555.
NLM
Nascimento RMP, Otto PA, Brouwer APM, Vianna-Morgante AM. UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. American Journal of Human Genetics. 2006 ;( 3): 549-555.[citado 2025 out. 15 ]
Vancouver
Nascimento RMP, Otto PA, Brouwer APM, Vianna-Morgante AM. UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. American Journal of Human Genetics. 2006 ;( 3): 549-555.[citado 2025 out. 15 ]
Artigo de periodico
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis (2004)
Nishimura, Agnes L.; Mitne Neto, Miguel; Silva, Helga C. A.; Richieri-Costa, Antonio; Middleton, Susan; Cascio, Duilio; Kok, Fernando; Oliveira, João R. M.; Gillingwater, Tom; Webb, Jeanette; Skehel, Paul; Zatz, Mayana
Source: American Journal of Human Genetics. Unidades: HRAC, IB
Subjects: DOENÇAS NEUROMUSCULARES, DOENÇAS NEURODEGENERATIVAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
NISHIMURA, Agnes L. et al. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. American Journal of Human Genetics, v. No, n. 5, p. 822-831, 2004Tradução . . Acesso em: 15 out. 2025.
APA
Nishimura, A. L., Mitne Neto, M., Silva, H. C. A., Richieri-Costa, A., Middleton, S., Cascio, D., et al. (2004). A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. American Journal of Human Genetics, No( 5), 822-831.
NLM
Nishimura AL, Mitne Neto M, Silva HCA, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JRM, Gillingwater T, Webb J, Skehel P, Zatz M. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. American Journal of Human Genetics. 2004 ; No( 5): 822-831.[citado 2025 out. 15 ]
Vancouver
Nishimura AL, Mitne Neto M, Silva HCA, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JRM, Gillingwater T, Webb J, Skehel P, Zatz M. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. American Journal of Human Genetics. 2004 ; No( 5): 822-831.[citado 2025 out. 15 ]
Artigo de periodico
The phylogeography of mitochondrial DNA haplogroup L3 in Africa and the atlantic slave trade (2004)
Bortolini, Maria Cátira; Silva Júnior, Wilson Araújo da; Zago, Marco Antônio; Elion, Jacques; Krishnamoorthy, Ragajopal; Gonçalves, Vanessa F.; Pena, Sérgio D. J.
Source: American Journal of Human Genetics. Unidade: FMRP
Assunto: GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
BORTOLINI, Maria Cátira et al. The phylogeography of mitochondrial DNA haplogroup L3 in Africa and the atlantic slave trade. American Journal of Human Genetics, v. 75, p. 522-524, 2004Tradução . . Acesso em: 15 out. 2025.
APA
Bortolini, M. C., Silva Júnior, W. A. da, Zago, M. A., Elion, J., Krishnamoorthy, R., Gonçalves, V. F., & Pena, S. D. J. (2004). The phylogeography of mitochondrial DNA haplogroup L3 in Africa and the atlantic slave trade. American Journal of Human Genetics, 75, 522-524.
NLM
Bortolini MC, Silva Júnior WA da, Zago MA, Elion J, Krishnamoorthy R, Gonçalves VF, Pena SDJ. The phylogeography of mitochondrial DNA haplogroup L3 in Africa and the atlantic slave trade. American Journal of Human Genetics. 2004 ; 75 522-524.[citado 2025 out. 15 ]
Vancouver
Bortolini MC, Silva Júnior WA da, Zago MA, Elion J, Krishnamoorthy R, Gonçalves VF, Pena SDJ. The phylogeography of mitochondrial DNA haplogroup L3 in Africa and the atlantic slave trade. American Journal of Human Genetics. 2004 ; 75 522-524.[citado 2025 out. 15 ]
Artigo de periodico
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis (2004)
Nishimura, Agnes Lumi; Mitne Neto, Miguel; Silva, Helga Cristina Almeida da; Richieri-Costa, Antonio; Middleton, Susan; Cascio, Duilio; Kok, Fernando; Oliveira, João Ricardo Mendes de; Gillingwater, T.; Webb, Jeanette; Skehel, Paul; Zatz, Mayana
Source: American Journal of Human Genetics. Unidades: HRAC, IB
Subjects: DOENÇAS NEURODEGENERATIVAS, MUTAÇÃO GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
NISHIMURA, Agnes Lumi et al. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. American Journal of Human Genetics, v. 75, n. 5, p. 822-831, 2004Tradução . . Disponível em: http://www.journals.uchicago.edu/AJHG/journal/issues/v75n5/41577/41577.web.pdf. Acesso em: 15 out. 2025.
APA
Nishimura, A. L., Mitne Neto, M., Silva, H. C. A. da, Richieri-Costa, A., Middleton, S., Cascio, D., et al. (2004). A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. American Journal of Human Genetics, 75( 5), 822-831. Recuperado de http://www.journals.uchicago.edu/AJHG/journal/issues/v75n5/41577/41577.web.pdf
NLM
Nishimura AL, Mitne Neto M, Silva HCA da, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JRM de, Gillingwater T, Webb J, Skehel P, Zatz M. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis [Internet]. American Journal of Human Genetics. 2004 ; 75( 5): 822-831.[citado 2025 out. 15 ] Available from: http://www.journals.uchicago.edu/AJHG/journal/issues/v75n5/41577/41577.web.pdf
Vancouver
Nishimura AL, Mitne Neto M, Silva HCA da, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JRM de, Gillingwater T, Webb J, Skehel P, Zatz M. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis [Internet]. American Journal of Human Genetics. 2004 ; 75( 5): 822-831.[citado 2025 out. 15 ] Available from: http://www.journals.uchicago.edu/AJHG/journal/issues/v75n5/41577/41577.web.pdf
Trabalho de evento-resumo periodico
Phenotype and behavior in patients with Algelman syndrome: comparisons between the different classes of deletions and between patients with a deletion and with UPD (2003)
Varela, M. C.; Kok, Fernando; Kohl, I.; Castro, C. I. E.; Koiffmann, Celia Priszkulnik
Source: American Journal of Human Genetics. Conference titles: Annual Meeting of the American Society of Human Genetics. Unidade: IB
Assunto: SÍNDROME DE ANGELMAN
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
VARELA, M. C. et al. Phenotype and behavior in patients with Algelman syndrome: comparisons between the different classes of deletions and between patients with a deletion and with UPD. American Journal of Human Genetics. Baltimore: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 15 out. 2025. , 2003
APA
Varela, M. C., Kok, F., Kohl, I., Castro, C. I. E., & Koiffmann, C. P. (2003). Phenotype and behavior in patients with Algelman syndrome: comparisons between the different classes of deletions and between patients with a deletion and with UPD. American Journal of Human Genetics. Baltimore: Instituto de Biociências, Universidade de São Paulo.
NLM
Varela MC, Kok F, Kohl I, Castro CIE, Koiffmann CP. Phenotype and behavior in patients with Algelman syndrome: comparisons between the different classes of deletions and between patients with a deletion and with UPD. American Journal of Human Genetics. 2003 ; 73( 5): 319.[citado 2025 out. 15 ]
Vancouver
Varela MC, Kok F, Kohl I, Castro CIE, Koiffmann CP. Phenotype and behavior in patients with Algelman syndrome: comparisons between the different classes of deletions and between patients with a deletion and with UPD. American Journal of Human Genetics. 2003 ; 73( 5): 319.[citado 2025 out. 15 ]
Trabalho de evento-resumo periodico
Molecular and cytogenetic analyses in Brazilian patients affected by autism spectrum disorders (2003)
Moreira, E. S.; Orabona, G. M.; Avelar, L. O.; Vadasz, E.; Biason, L. M.; Takahashi, V. N. O.; Abe, K.; Vianna-Morgante, Angela M ; Passos-Bueno, Maria Rita
Source: American Journal of Human Genetics. Conference titles: Annual Meeting of the American Society of Human Genetics. Unidade: IB
Subjects: CROMOSSOMOS (ANOMALIAS), AUTISMO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MOREIRA, E. S. et al. Molecular and cytogenetic analyses in Brazilian patients affected by autism spectrum disorders. American Journal of Human Genetics. Baltimore: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 15 out. 2025. , 2003
APA
Moreira, E. S., Orabona, G. M., Avelar, L. O., Vadasz, E., Biason, L. M., Takahashi, V. N. O., et al. (2003). Molecular and cytogenetic analyses in Brazilian patients affected by autism spectrum disorders. American Journal of Human Genetics. Baltimore: Instituto de Biociências, Universidade de São Paulo.
NLM
Moreira ES, Orabona GM, Avelar LO, Vadasz E, Biason LM, Takahashi VNO, Abe K, Vianna-Morgante AM, Passos-Bueno MR. Molecular and cytogenetic analyses in Brazilian patients affected by autism spectrum disorders. American Journal of Human Genetics. 2003 ; no 2003( 5): 520.[citado 2025 out. 15 ]
Vancouver
Moreira ES, Orabona GM, Avelar LO, Vadasz E, Biason LM, Takahashi VNO, Abe K, Vianna-Morgante AM, Passos-Bueno MR. Molecular and cytogenetic analyses in Brazilian patients affected by autism spectrum disorders. American Journal of Human Genetics. 2003 ; no 2003( 5): 520.[citado 2025 out. 15 ]
Trabalho de evento-resumo periodico
Possible digenic for limb girdle muscular dystropy (2003)
Starling, Alessandra; Paula, F de; Pavanello, Rita de Cássia M.; Vainzof, Mariz ; Zatz, Mayana
Source: American Journal of Human Genetics. Conference titles: Annual Meeting of the American Society of Human Genetics. Unidade: IB
Assunto: DISTROFIA MUSCULAR
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
STARLING, Alessandra et al. Possible digenic for limb girdle muscular dystropy. American Journal of Human Genetics. Baltimore: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 15 out. 2025. , 2003
APA
Starling, A., Paula, F. de, Pavanello, R. de C. M., Vainzof, M., & Zatz, M. (2003). Possible digenic for limb girdle muscular dystropy. American Journal of Human Genetics. Baltimore: Instituto de Biociências, Universidade de São Paulo.
NLM
Starling A, Paula F de, Pavanello R de CM, Vainzof M, Zatz M. Possible digenic for limb girdle muscular dystropy. American Journal of Human Genetics. 2003 ; 73( 5): 481.[citado 2025 out. 15 ]
Vancouver
Starling A, Paula F de, Pavanello R de CM, Vainzof M, Zatz M. Possible digenic for limb girdle muscular dystropy. American Journal of Human Genetics. 2003 ; 73( 5): 481.[citado 2025 out. 15 ]

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