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Filtros : "Financiamento National Institute of Neurological Disorders and Stroke" Removido: "Financiamento FAPESP" Limpar

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  • Artigo de periodico

    Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals (2023)

    Saida, Ken; Marootain, Reza; Sengoku, Toru; Mitani, Tadahiro; Pagnamenta, Alistair T; Marafi, Dana; Zaki, Maha S; O'Brien, Thomas J; Karimiani, Ehsan Ghayoor; Kaiyrzhanov, Rauan; Ceroni, José Ricardo Magliocco ; Kim, Chong Ae

    Fonte: Genetics in medicine. Unidade: FM

    Assuntos: AGENTES DOPAMINÉRGICOS, CÉREBRO

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    • ABNT

      SAIDA, Ken et al. Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals. Genetics in medicine, v. 25, n. 1, p. 90-102, 2023Tradução . . Disponível em: https://observatorio.fm.usp.br/handle/OPI/53033. Acesso em: 27 nov. 2025.

    • APA

      Saida, K., Marootain, R., Sengoku, T., Mitani, T., Pagnamenta, A. T., Marafi, D., et al. (2023). Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals. Genetics in medicine, 25( 1), 90-102. doi:10.1016/j.gim.2022.09.010

    • NLM

      Saida K, Marootain R, Sengoku T, Mitani T, Pagnamenta AT, Marafi D, Zaki MS, O'Brien TJ, Karimiani EG, Kaiyrzhanov R, Ceroni JRM, Kim CA. Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals [Internet]. Genetics in medicine. 2023 ; 25( 1): 90-102.[citado 2025 nov. 27 ] Available from: https://observatorio.fm.usp.br/handle/OPI/53033

    • Vancouver

      Saida K, Marootain R, Sengoku T, Mitani T, Pagnamenta AT, Marafi D, Zaki MS, O'Brien TJ, Karimiani EG, Kaiyrzhanov R, Ceroni JRM, Kim CA. Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals [Internet]. Genetics in medicine. 2023 ; 25( 1): 90-102.[citado 2025 nov. 27 ] Available from: https://observatorio.fm.usp.br/handle/OPI/53033

  • Artigo de periodico

    Updated consensus guidelines on the management of Phelan–McDermid syndrome (2023)

    Srivastava, Siddharth ; Sahin, Mustafa ; Buxbaum, Joseph D ; Berry-Kravis, Elizabeth; Soorya, Latha Valluripalli; Thurm, Audrey ; Bernstein, Jonathan A ; Asante-Otoo, Afua; Bennett Jr, William E; Betancur, Catalina ; Brickhouse, Tegwyn H; Passos-Bueno, Maria Rita

    Fonte: American Journal of Medical Genetics. Part A. Unidade: IB

    Assuntos: GENÉTICA MÉDICA, NEUROGENÉTICA

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    • ABNT

      SRIVASTAVA, Siddharth et al. Updated consensus guidelines on the management of Phelan–McDermid syndrome. American Journal of Medical Genetics. Part A, v. 191, n. 8, p. 2015-2044, 2023Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.63312. Acesso em: 27 nov. 2025.

    • APA

      Srivastava, S., Sahin, M., Buxbaum, J. D., Berry-Kravis, E., Soorya, L. V., Thurm, A., et al. (2023). Updated consensus guidelines on the management of Phelan–McDermid syndrome. American Journal of Medical Genetics. Part A, 191( 8), 2015-2044. doi:10.1002/ajmg.a.63312

    • NLM

      Srivastava S, Sahin M, Buxbaum JD, Berry-Kravis E, Soorya LV, Thurm A, Bernstein JA, Asante-Otoo A, Bennett Jr WE, Betancur C, Brickhouse TH, Passos-Bueno MR. Updated consensus guidelines on the management of Phelan–McDermid syndrome [Internet]. American Journal of Medical Genetics. Part A. 2023 ;191( 8): 2015-2044.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1002/ajmg.a.63312

    • Vancouver

      Srivastava S, Sahin M, Buxbaum JD, Berry-Kravis E, Soorya LV, Thurm A, Bernstein JA, Asante-Otoo A, Bennett Jr WE, Betancur C, Brickhouse TH, Passos-Bueno MR. Updated consensus guidelines on the management of Phelan–McDermid syndrome [Internet]. American Journal of Medical Genetics. Part A. 2023 ;191( 8): 2015-2044.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1002/ajmg.a.63312

  • Artigo de periodico

    Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p (2022)

    Weiner, Daniel J. ; Ling, Emi ; Erdin, Serkan ; Tai, Derek J. C.; Yadav, Rachita; Grove, Jakob ; Fu, Jack M. ; Nadig, Ajay; Rovaris, Diego Luiz

    Fonte: Nature Genetics. Unidade: ICB

    Assunto: FISIOLOGIA

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    • ABNT

      WEINER, Daniel J. et al. Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p. Nature Genetics, v. 54, p. 1630–1639, 2022Tradução . . Disponível em: https://doi.org/10.1038/s41588-022-01203-y. Acesso em: 27 nov. 2025.

    • APA

      Weiner, D. J., Ling, E., Erdin, S., Tai, D. J. C., Yadav, R., Grove, J., et al. (2022). Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p. Nature Genetics, 54, 1630–1639. doi:10.1038/s41588-022-01203-y

    • NLM

      Weiner DJ, Ling E, Erdin S, Tai DJC, Yadav R, Grove J, Fu JM, Nadig A, Rovaris DL. Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p [Internet]. Nature Genetics. 2022 ; 54 1630–1639.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1038/s41588-022-01203-y

    • Vancouver

      Weiner DJ, Ling E, Erdin S, Tai DJC, Yadav R, Grove J, Fu JM, Nadig A, Rovaris DL. Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p [Internet]. Nature Genetics. 2022 ; 54 1630–1639.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1038/s41588-022-01203-y

  • Artigo de periodico

    Absence epilepsy in male and female WAG/Rij rats: a longitudinal EEG analysis of seizure expression (2021)

    Lopes, Willian Lazarini; Campos-Rodriguez, Carolina; Palmer, Devin; N’Gouemo, Prosper; Garcia-Cairasco, Norberto ; Forcelli, Patrick A.

    Fonte: Epilepsy Research. Unidade: FMRP

    Assuntos: ELETROENCEFALOGRAFIA, EPILEPSIA, CONVULSÕES

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    • ABNT

      LOPES, Willian Lazarini et al. Absence epilepsy in male and female WAG/Rij rats: a longitudinal EEG analysis of seizure expression. Epilepsy Research, v. 176, p. 1-6, 2021Tradução . . Disponível em: https://doi.org/10.1016/j.eplepsyres.2021.106693. Acesso em: 27 nov. 2025.

    • APA

      Lopes, W. L., Campos-Rodriguez, C., Palmer, D., N’Gouemo, P., Garcia-Cairasco, N., & Forcelli, P. A. (2021). Absence epilepsy in male and female WAG/Rij rats: a longitudinal EEG analysis of seizure expression. Epilepsy Research, 176, 1-6. doi:10.1016/j.eplepsyres.2021.106693

    • NLM

      Lopes WL, Campos-Rodriguez C, Palmer D, N’Gouemo P, Garcia-Cairasco N, Forcelli PA. Absence epilepsy in male and female WAG/Rij rats: a longitudinal EEG analysis of seizure expression [Internet]. Epilepsy Research. 2021 ; 176 1-6.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1016/j.eplepsyres.2021.106693

    • Vancouver

      Lopes WL, Campos-Rodriguez C, Palmer D, N’Gouemo P, Garcia-Cairasco N, Forcelli PA. Absence epilepsy in male and female WAG/Rij rats: a longitudinal EEG analysis of seizure expression [Internet]. Epilepsy Research. 2021 ; 176 1-6.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1016/j.eplepsyres.2021.106693
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