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Artigo de periodico
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases (2015)
Verloes, Alain; Di Donato, Nataliya; Masliah-Planchon, Julien; Jongmans, Marjolijn; Abdul-Raman, Omar A.; Albrecht, Beate; Allanson, Judith; Brunnner, Han; Bertola, Débora; Chassaing, Nicolas; David, Albert; Devriendt, Koen; Eftekhari, Pirayeh; Drouin-Garraud, Valérie; Faravelli, Francesca; Faivre, Laurence; Giuliano, Fabienne; Guion-Almeida, Maria Leine; Juncos, Jorge; Kempers, Marlies; Eker, Hatice Koçak; Lacombe, Didier; Lin, Angela; Mancini, Grazia; Melis, Daniela; Lourenço, Charles Marques; Siu, Victoria Mok; Morin, Gilles; Nezarati, Marjan; Nowaczyk, Malgorzata J. M.; Ramer, Jeanette C.; Osimani, Sara; Philip, Nicole; Pierpont, Mary Ella; Procraccio, Vincent; Zechi-Ceide, Roseli Maria; Rossi, Massimiliano; Rusu, Cristina; Sznajer, Yves; Templin, Ludivine; Uliana, Vera; Klaus, Mirjam; Van Bon, Bregje; Van Ravenswaaij, Conny; Wainer, Bruce; Fry, Andrew E.; Rump, Andreas; Hoischen, Alexander; Drunat, Séverine; Rivière, Jean-Baptiste; Dobyns, William B.; Pilz, Daniela T.
Source: European Journal of Human Genetics. Unidade: HRAC
Subjects: GENÉTICA MÉDICA, ANORMALIDADES CRANIOFACIAIS, MUTAÇÃO GENÉTICA
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ABNT
VERLOES, Alain et al. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. European Journal of Human Genetics, v. 23, n. 3, p. 292-301, 2015Tradução . . Disponível em: https://doi.org/10.1038/ejhg.2014.95. Acesso em: 03 nov. 2024.
APA
Verloes, A., Di Donato, N., Masliah-Planchon, J., Jongmans, M., Abdul-Raman, O. A., Albrecht, B., et al. (2015). Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. European Journal of Human Genetics, 23( 3), 292-301. doi:10.1038/ejhg.2014.95
NLM
Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunnner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion-Almeida ML, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenço CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJM, Ramer JC, Osimani S, Philip N, Pierpont ME, Procraccio V, Zechi-Ceide RM, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, Rivière J-B, Dobyns WB, Pilz DT. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases [Internet]. European Journal of Human Genetics. 2015 ; 23( 3): 292-301.[citado 2024 nov. 03 ] Available from: https://doi.org/10.1038/ejhg.2014.95
Vancouver
Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunnner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion-Almeida ML, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenço CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJM, Ramer JC, Osimani S, Philip N, Pierpont ME, Procraccio V, Zechi-Ceide RM, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, Rivière J-B, Dobyns WB, Pilz DT. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases [Internet]. European Journal of Human Genetics. 2015 ; 23( 3): 292-301.[citado 2024 nov. 03 ] Available from: https://doi.org/10.1038/ejhg.2014.95
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
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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: 03 nov. 2024.
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 2024 nov. 03 ] 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 2024 nov. 03 ] Available from: https://doi.org/10.1016/j.ajhg.2015.01.015
Artigo de periodico
Further delineation of Kabuki Syndrome in 48 well-defined new individuals (2005)
Armstrong, Linlea; Moneim, Azza Abd El; Aleck, Kirk; Aughton, David J.; Baumann, Clarisse; Braddock, Stephen R.; Gillessen-Kaesbach, Gabriele; Graham Junior, John M.; Grebe, Theresa A.; Gripp, Karen W.; Hall, Bryan D.; Hennekam, Raoul; Hunter, Alasdair; Keppler-Noreuil, Kim; Lacombe, Didier; Lin, Angela E.; Ming, Jeffrey E.; Nakata, Nancy Mizue Kokitsu ; Nikkel, Sarah M.; Philip, Nicole; Raas-Rothschild, Annick; Sommer, Annemarie; Verloes, Alain; Walter, Claudia; Wieczorek, Dagmar; Williams, Marc S.; Zackai, Elaine; Allanson, Judith E.
Source: American Journal of Medical Genetics. Part A. Unidade: HRACF
Subjects: ANORMALIDADES CONGÊNITAS, ANORMALIDADES MÚLTIPLAS, FENÓTIPOS, RETARDO MENTAL, GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ARMSTRONG, Linlea et al. Further delineation of Kabuki Syndrome in 48 well-defined new individuals. American Journal of Medical Genetics. Part A, v. 132A, n. Ja 2005, p. 265-272, 2005Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.30340. Acesso em: 03 nov. 2024.
APA
Armstrong, L., Moneim, A. A. E., Aleck, K., Aughton, D. J., Baumann, C., Braddock, S. R., et al. (2005). Further delineation of Kabuki Syndrome in 48 well-defined new individuals. American Journal of Medical Genetics. Part A, 132A( Ja 2005), 265-272. doi:10.1002/ajmg.a.30340
NLM
Armstrong L, Moneim AAE, Aleck K, Aughton DJ, Baumann C, Braddock SR, Gillessen-Kaesbach G, Graham Junior JM, Grebe TA, Gripp KW, Hall BD, Hennekam R, Hunter A, Keppler-Noreuil K, Lacombe D, Lin AE, Ming JE, Nakata NMK, Nikkel SM, Philip N, Raas-Rothschild A, Sommer A, Verloes A, Walter C, Wieczorek D, Williams MS, Zackai E, Allanson JE. Further delineation of Kabuki Syndrome in 48 well-defined new individuals [Internet]. American Journal of Medical Genetics. Part A. 2005 ; 132A( Ja 2005): 265-272.[citado 2024 nov. 03 ] Available from: https://doi.org/10.1002/ajmg.a.30340
Vancouver
Armstrong L, Moneim AAE, Aleck K, Aughton DJ, Baumann C, Braddock SR, Gillessen-Kaesbach G, Graham Junior JM, Grebe TA, Gripp KW, Hall BD, Hennekam R, Hunter A, Keppler-Noreuil K, Lacombe D, Lin AE, Ming JE, Nakata NMK, Nikkel SM, Philip N, Raas-Rothschild A, Sommer A, Verloes A, Walter C, Wieczorek D, Williams MS, Zackai E, Allanson JE. Further delineation of Kabuki Syndrome in 48 well-defined new individuals [Internet]. American Journal of Medical Genetics. Part A. 2005 ; 132A( Ja 2005): 265-272.[citado 2024 nov. 03 ] Available from: https://doi.org/10.1002/ajmg.a.30340

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