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Artigo de periodico
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility (2018)
Zaharieva, Irina T; Sarkozy, Anna; Munot, Pinki; Manzur, Adnan; O'grady, Gina; Rendu, John; Malfatti, Eduardo; Amthor, Helge; Servais, Laurent; Urtizberea, J. Andoni; Zanoteli, Edmar
Fonte: Human mutation. Unidade: FM
Assuntos: MIOPATIAS CONGÊNITAS ESTRUTURAIS, HIPERTERMIA MALIGNA, PROTEÍNAS MUSCULARES, CONTRAÇÃO MUSCULAR
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ABNT
ZAHARIEVA, Irina T et al. STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. Human mutation, v. 39, n. 12, p. 1980-1994, 2018Tradução . . Disponível em: https://doi.org/10.1002/humu.23635. Acesso em: 24 out. 2025.
APA
Zaharieva, I. T., Sarkozy, A., Munot, P., Manzur, A., O'grady, G., Rendu, J., et al. (2018). STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. Human mutation, 39( 12), 1980-1994. doi:10.1002/humu.23635
NLM
Zaharieva IT, Sarkozy A, Munot P, Manzur A, O'grady G, Rendu J, Malfatti E, Amthor H, Servais L, Urtizberea JA, Zanoteli E. STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility [Internet]. Human mutation. 2018 ; 39( 12): 1980-1994.[citado 2025 out. 24 ] Available from: https://doi.org/10.1002/humu.23635
Vancouver
Zaharieva IT, Sarkozy A, Munot P, Manzur A, O'grady G, Rendu J, Malfatti E, Amthor H, Servais L, Urtizberea JA, Zanoteli E. STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility [Internet]. Human mutation. 2018 ; 39( 12): 1980-1994.[citado 2025 out. 24 ] Available from: https://doi.org/10.1002/humu.23635
Artigo de periodico
ClinVar database of global familial hypercholesterolemia-associated DNA variants (2018)
Iacocca, Michael A; Santos, Raul D
Fonte: Human mutation. Unidade: FM
Assuntos: HIPERCOLESTEROLEMIA, DOENÇAS GENÉTICAS, MUTAÇÃO GENÉTICA
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IACOCCA, Michael A e SANTOS, Raul D. ClinVar database of global familial hypercholesterolemia-associated DNA variants. Human mutation, v. 39, n. 11, p. 1631-1640, 2018Tradução . . Disponível em: https://doi.org/10.1002/humu.23634. Acesso em: 24 out. 2025.
APA
Iacocca, M. A., & Santos, R. D. (2018). ClinVar database of global familial hypercholesterolemia-associated DNA variants. Human mutation, 39( 11), 1631-1640. doi:10.1002/humu.23634
NLM
Iacocca MA, Santos RD. ClinVar database of global familial hypercholesterolemia-associated DNA variants [Internet]. Human mutation. 2018 ; 39( 11): 1631-1640.[citado 2025 out. 24 ] Available from: https://doi.org/10.1002/humu.23634
Vancouver
Iacocca MA, Santos RD. ClinVar database of global familial hypercholesterolemia-associated DNA variants [Internet]. Human mutation. 2018 ; 39( 11): 1631-1640.[citado 2025 out. 24 ] Available from: https://doi.org/10.1002/humu.23634
Artigo de periodico
Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants (2012)
Kroos, Marian; Hoogeveen-westerveld, Marianne; Michelakakis, Helen; Pomponio, Robert; Ploeg, Ans Van der; Halley, Dicky; Reuser, Arnold; Marie, Suely Kazue Nagahashi
Fonte: Human mutation. Unidade: FM
Assuntos: GLICOGENOSE, MUTAÇÃO GENÉTICA, MUTAGÊNESE, BANCO DE DADOS
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KROOS, Marian et al. Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants. Human mutation, v. 33, n. 8, p. 1161-1165, 2012Tradução . . Disponível em: https://doi.org/10.1002/humu.22108. Acesso em: 24 out. 2025.
APA
Kroos, M., Hoogeveen-westerveld, M., Michelakakis, H., Pomponio, R., Ploeg, A. V. der, Halley, D., et al. (2012). Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants. Human mutation, 33( 8), 1161-1165. doi:10.1002/humu.22108
NLM
Kroos M, Hoogeveen-westerveld M, Michelakakis H, Pomponio R, Ploeg AV der, Halley D, Reuser A, Marie SKN. Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants [Internet]. Human mutation. 2012 ; 33( 8): 1161-1165.[citado 2025 out. 24 ] Available from: https://doi.org/10.1002/humu.22108
Vancouver
Kroos M, Hoogeveen-westerveld M, Michelakakis H, Pomponio R, Ploeg AV der, Halley D, Reuser A, Marie SKN. Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants [Internet]. Human mutation. 2012 ; 33( 8): 1161-1165.[citado 2025 out. 24 ] Available from: https://doi.org/10.1002/humu.22108
Artigo de periodico
Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10 (2011)
Frank-Raue, Karin; Rybicki, Lisa A.; Erlic, Zoran; Schweizer, Heiko; Winter, Aurelia; Milos, Ioana; Toledo, Sergio Pereira de Almeida; Toledo, Rodrigo A.; Tavares, Marcos R.; Alevizaki, Maria; Mian, Caterina; Siggelkow, Heide; Hüfner, Michael; Wohllk, Nelson; Opocher, Giuseppe; Dvořáková, Šárka; Bendlova, Bela; Czetwertynska, Małgorzata; Skasko, Elżbieta; Barontini, Marta; Sanso, Gabriela; Vorländer, Christian; Maia, Ana Luiza; Patocs, Attila; Links, Thera P.; de Groot, Jan Willem; Kerstens, Michiel N.; Valk, Gerlof D.; Miehle, Konstanze; Musholt, Thomas J.; Biarnes, Josefina; Damjanovic, Svetozar; Muresan, Mihaela; Wüster, Christian; Fassnacht, Martin; Peczkowska, Mariola; Fauth, Christine; Golcher, Henriette; Walter, Martin A.; Pichl, Josef; Raue, Friedhelm; Eng, Charis; Neumann, Hartmut P. H.
Fonte: Human mutation. Unidade: FM
Assuntos: NEOPLASIA ENDÓCRINA MÚLTIPLA (GENÉTICA), FATORES DE CRESCIMENTO, NEOPLASIAS DA TIREOIDE, GENÓTIPOS, CARCINOMA MEDULAR, FENÓTIPOS, METÁSTASE NEOPLÁSICA
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ABNT
FRANK-RAUE, Karin et al. Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. Human mutation, v. 32, n. 1, p. 51-58, 2011Tradução . . Disponível em: http://onlinelibrary.wiley.com/doi/10.1002/humu.21385/pdf. Acesso em: 24 out. 2025.
APA
Frank-Raue, K., Rybicki, L. A., Erlic, Z., Schweizer, H., Winter, A., Milos, I., et al. (2011). Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. Human mutation, 32( 1), 51-58. doi:10.1002/humu.21385
NLM
Frank-Raue K, Rybicki LA, Erlic Z, Schweizer H, Winter A, Milos I, Toledo SP de A, Toledo RA, Tavares MR, Alevizaki M, Mian C, Siggelkow H, Hüfner M, Wohllk N, Opocher G, Dvořáková Š, Bendlova B, Czetwertynska M, Skasko E, Barontini M, Sanso G, Vorländer C, Maia AL, Patocs A, Links TP, de Groot JW, Kerstens MN, Valk GD, Miehle K, Musholt TJ, Biarnes J, Damjanovic S, Muresan M, Wüster C, Fassnacht M, Peczkowska M, Fauth C, Golcher H, Walter MA, Pichl J, Raue F, Eng C, Neumann HPH. Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10 [Internet]. Human mutation. 2011 ; 32( 1): 51-58.[citado 2025 out. 24 ] Available from: http://onlinelibrary.wiley.com/doi/10.1002/humu.21385/pdf
Vancouver
Frank-Raue K, Rybicki LA, Erlic Z, Schweizer H, Winter A, Milos I, Toledo SP de A, Toledo RA, Tavares MR, Alevizaki M, Mian C, Siggelkow H, Hüfner M, Wohllk N, Opocher G, Dvořáková Š, Bendlova B, Czetwertynska M, Skasko E, Barontini M, Sanso G, Vorländer C, Maia AL, Patocs A, Links TP, de Groot JW, Kerstens MN, Valk GD, Miehle K, Musholt TJ, Biarnes J, Damjanovic S, Muresan M, Wüster C, Fassnacht M, Peczkowska M, Fauth C, Golcher H, Walter MA, Pichl J, Raue F, Eng C, Neumann HPH. Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10 [Internet]. Human mutation. 2011 ; 32( 1): 51-58.[citado 2025 out. 24 ] Available from: http://onlinelibrary.wiley.com/doi/10.1002/humu.21385/pdf
Artigo de periodico
Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients (2004)
Deguti, Marta M.; Genschel, Janine; Cançado, Eduardo L. R.; Barbosa, Egberto R.; Bochow, Bettina; Mucennic, Marcos; Porta, Gilda; Lochs, Herbert; Carrilho, Flair J.; Schmidt, Hartmut H.-J.
Fonte: Human mutation. Unidade: FM
Assuntos: MUTAÇÃO GENÉTICA, FENÓTIPOS, GENÓTIPOS, DOENÇAS GENÉTICAS (DIAGNÓSTICO), DOENÇAS DEGENERATIVAS (GENÉTICA)
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ABNT
DEGUTI, Marta M. et al. Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients. Human mutation, v. 23, n. 4, p. online, 2004Tradução . . Disponível em: https://doi.org/10.1002/humu.9227. Acesso em: 24 out. 2025.
APA
Deguti, M. M., Genschel, J., Cançado, E. L. R., Barbosa, E. R., Bochow, B., Mucennic, M., et al. (2004). Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients. Human mutation, 23( 4), online. doi:10.1002/humu.9227
NLM
Deguti MM, Genschel J, Cançado ELR, Barbosa ER, Bochow B, Mucennic M, Porta G, Lochs H, Carrilho FJ, Schmidt HH-J. Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients [Internet]. Human mutation. 2004 ; 23( 4): online.[citado 2025 out. 24 ] Available from: https://doi.org/10.1002/humu.9227
Vancouver
Deguti MM, Genschel J, Cançado ELR, Barbosa ER, Bochow B, Mucennic M, Porta G, Lochs H, Carrilho FJ, Schmidt HH-J. Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients [Internet]. Human mutation. 2004 ; 23( 4): online.[citado 2025 out. 24 ] Available from: https://doi.org/10.1002/humu.9227
Artigo de periodico
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD) (2004)
Bergmann, Carsten; Senderek, Jan; Kupper, Fabian; Schneider, Frank; Dornia, Christian; Windelen, Ellen; Eggermann, Thomas; Rudnik-Schoneborn, Sabine; Kirfel, Jutta; Furu, Laszlo; Onuchic, Luiz F.; Rossetti, Sandro; Harris, Peter C.; Somlo, Stefan; Guay-Woodford, Lisa; Germino, Gregory G.; Moser, Markus; Buttner, Reinhard; Zerresm, Klaus
Fonte: Human mutation. Unidade: FM
Assuntos: CISTOS, RIM (FISIOPATOLOGIA), GENÓTIPOS, MUTAÇÃO GENÉTICA, ANTICORPOS
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BERGMANN, Carsten et al. PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). Human mutation, v. 23, n. 5, p. 453-463, 2004Tradução . . Disponível em: http://onlinelibrary.wiley.com/doi/10.1002/humu.20029/pdf. Acesso em: 24 out. 2025.
APA
Bergmann, C., Senderek, J., Kupper, F., Schneider, F., Dornia, C., Windelen, E., et al. (2004). PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). Human mutation, 23( 5), 453-463. Recuperado de http://onlinelibrary.wiley.com/doi/10.1002/humu.20029/pdf
NLM
Bergmann C, Senderek J, Kupper F, Schneider F, Dornia C, Windelen E, Eggermann T, Rudnik-Schoneborn S, Kirfel J, Furu L, Onuchic LF, Rossetti S, Harris PC, Somlo S, Guay-Woodford L, Germino GG, Moser M, Buttner R, Zerresm K. PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD) [Internet]. Human mutation. 2004 ; 23( 5): 453-463.[citado 2025 out. 24 ] Available from: http://onlinelibrary.wiley.com/doi/10.1002/humu.20029/pdf
Vancouver
Bergmann C, Senderek J, Kupper F, Schneider F, Dornia C, Windelen E, Eggermann T, Rudnik-Schoneborn S, Kirfel J, Furu L, Onuchic LF, Rossetti S, Harris PC, Somlo S, Guay-Woodford L, Germino GG, Moser M, Buttner R, Zerresm K. PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD) [Internet]. Human mutation. 2004 ; 23( 5): 453-463.[citado 2025 out. 24 ] Available from: http://onlinelibrary.wiley.com/doi/10.1002/humu.20029/pdf
Artigo de periodico
Novel point mutations in the dystrophin gene (1997)
Zatz, Mayana ; Passos-Bueno, Maria Rita
Fonte: Human mutation. Unidade: IB
Assunto: GENÉTICA MÉDICA
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ABNT
ZATZ, Mayana e PASSOS-BUENO, Maria Rita. Novel point mutations in the dystrophin gene. Human mutation, n. 10, p. 217-222, 1997Tradução . . Disponível em: https://doi.org/10.1002/(sici)1098-1004(1997)10:3%3C217::aid-humu7%3E3.3.co;2-o. Acesso em: 24 out. 2025.
APA
Zatz, M., & Passos-Bueno, M. R. (1997). Novel point mutations in the dystrophin gene. Human mutation, ( 10), 217-222. doi:10.1002/(sici)1098-1004(1997)10:3%3C217::aid-humu7%3E3.3.co;2-o
NLM
Zatz M, Passos-Bueno MR. Novel point mutations in the dystrophin gene [Internet]. Human mutation. 1997 ;( 10): 217-222.[citado 2025 out. 24 ] Available from: https://doi.org/10.1002/(sici)1098-1004(1997)10:3%3C217::aid-humu7%3E3.3.co;2-o
Vancouver
Zatz M, Passos-Bueno MR. Novel point mutations in the dystrophin gene [Internet]. Human mutation. 1997 ;( 10): 217-222.[citado 2025 out. 24 ] Available from: https://doi.org/10.1002/(sici)1098-1004(1997)10:3%3C217::aid-humu7%3E3.3.co;2-o

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