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Artigo de periodico
ATP6V1B2-related epileptic encephalopathy (2020)
Inuzuka, Luciana Midori; Macedo-souza, Lucia Ines; Della-Rippa, Bruno; Monteiro, Fabiola Paoli; Delgado, Daniel de Souza; Godoy, Luis Filipe; Ramos, Luiza; Costa, Larissa Sampaio de Athayde; Garzon, Eliana; Kok, Fernando
Source: Epileptic disorders. Unidade: FM
Subjects: DOENÇAS CEREBRAIS, EPILEPSIA, SURDEZ
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
INUZUKA, Luciana Midori et al. ATP6V1B2-related epileptic encephalopathy. Epileptic disorders, v. 22, n. 3, p. 317-322, 2020Tradução . . Disponível em: https://doi.org/10.1684/epd.2020.1166. Acesso em: 05 nov. 2024.
APA
Inuzuka, L. M., Macedo-souza, L. I., Della-Rippa, B., Monteiro, F. P., Delgado, D. de S., Godoy, L. F., et al. (2020). ATP6V1B2-related epileptic encephalopathy. Epileptic disorders, 22( 3), 317-322. doi:10.1684/epd.2020.1166
NLM
Inuzuka LM, Macedo-souza LI, Della-Rippa B, Monteiro FP, Delgado D de S, Godoy LF, Ramos L, Costa LS de A, Garzon E, Kok F. ATP6V1B2-related epileptic encephalopathy [Internet]. Epileptic disorders. 2020 ; 22( 3): 317-322.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1684/epd.2020.1166
Vancouver
Inuzuka LM, Macedo-souza LI, Della-Rippa B, Monteiro FP, Delgado D de S, Godoy LF, Ramos L, Costa LS de A, Garzon E, Kok F. ATP6V1B2-related epileptic encephalopathy [Internet]. Epileptic disorders. 2020 ; 22( 3): 317-322.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1684/epd.2020.1166
Artigo de periodico
Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy (2020)
Inuzuka, Luciana Midori; Macedo-souza, Lucia Ines; Della-ripa, Bruno; Monteiro, Fabiola Paoli; Ramos, Luiza; Kitajima, Joao Paulo; Garzon, Eliana; Kok, Fernando
Source: Brain & development. Unidade: FM
Subjects: DOENÇAS CEREBRAIS, EPILEPSIA DO LOBO TEMPORAL, FENÓTIPOS, CANAIS DE POTÁSSIO, ADOLESCENTES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
INUZUKA, Luciana Midori et al. Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy. Brain & development, v. 42, n. 9, p. 691-695, 2020Tradução . . Disponível em: https://doi.org/10.1016/j.braindev.2020.05.003. Acesso em: 05 nov. 2024.
APA
Inuzuka, L. M., Macedo-souza, L. I., Della-ripa, B., Monteiro, F. P., Ramos, L., Kitajima, J. P., et al. (2020). Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy. Brain & development, 42( 9), 691-695. doi:10.1016/j.braindev.2020.05.003
NLM
Inuzuka LM, Macedo-souza LI, Della-ripa B, Monteiro FP, Ramos L, Kitajima JP, Garzon E, Kok F. Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy [Internet]. Brain & development. 2020 ; 42( 9): 691-695.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1016/j.braindev.2020.05.003
Vancouver
Inuzuka LM, Macedo-souza LI, Della-ripa B, Monteiro FP, Ramos L, Kitajima JP, Garzon E, Kok F. Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy [Internet]. Brain & development. 2020 ; 42( 9): 691-695.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1016/j.braindev.2020.05.003
Artigo de periodico
Expanding the Molecular and Clinical Phenotype of SSR4-CDG (2015)
Ng, Bobby G.; Raymond, Kimiyo; Kircher, Martin; Buckingham, Kati J.; Wood, Tim; Shendure, Jay; Nickerson, Deborah A.; Bamshad, Michael J.; Wong, Jonathan T. S.; Monteiro, Fabiola Paoli; Graham, Brett H.; Jackson, Sheryl; Sparkes, Rebecca; Scheuerle, Angela E.; Cathey, Sara; Kok, Fernando; Gibson, James B.; Freeze, Hudson H.
Source: Human Mutation. Unidades: FM, IB
Subjects: ERROS INATOS DO METABOLISMO DOS CARBOIDRATOS, RECEPTORES, ANORMALIDADES DO SISTEMA NERVOSO, DOENÇAS METABÓLICAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
NG, Bobby G. et al. Expanding the Molecular and Clinical Phenotype of SSR4-CDG. Human Mutation, v. 36, n. 11, p. on-line, 2015Tradução . . Disponível em: http://onlinelibrary.wiley.com/doi/10.1002/humu.22856/epdf. Acesso em: 05 nov. 2024.
APA
Ng, B. G., Raymond, K., Kircher, M., Buckingham, K. J., Wood, T., Shendure, J., et al. (2015). Expanding the Molecular and Clinical Phenotype of SSR4-CDG. Human Mutation, 36( 11), on-line. doi:10.1002/humu.22856
NLM
Ng BG, Raymond K, Kircher M, Buckingham KJ, Wood T, Shendure J, Nickerson DA, Bamshad MJ, Wong JTS, Monteiro FP, Graham BH, Jackson S, Sparkes R, Scheuerle AE, Cathey S, Kok F, Gibson JB, Freeze HH. Expanding the Molecular and Clinical Phenotype of SSR4-CDG [Internet]. Human Mutation. 2015 ; 36( 11): on-line.[citado 2024 nov. 05 ] Available from: http://onlinelibrary.wiley.com/doi/10.1002/humu.22856/epdf
Vancouver
Ng BG, Raymond K, Kircher M, Buckingham KJ, Wood T, Shendure J, Nickerson DA, Bamshad MJ, Wong JTS, Monteiro FP, Graham BH, Jackson S, Sparkes R, Scheuerle AE, Cathey S, Kok F, Gibson JB, Freeze HH. Expanding the Molecular and Clinical Phenotype of SSR4-CDG [Internet]. Human Mutation. 2015 ; 36( 11): on-line.[citado 2024 nov. 05 ] Available from: http://onlinelibrary.wiley.com/doi/10.1002/humu.22856/epdf

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