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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
Source: Genetics in medicine. Unidade: FM
Subjects: 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: 18 nov. 2024.
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 2024 nov. 18 ] 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 2024 nov. 18 ] Available from: https://observatorio.fm.usp.br/handle/OPI/53033
Artigo de periodico
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder (2023)
Imagawa, Eri ; Seyama, Rie ; Aoi, Hiromi; Uchiyama, Yuri ; Marcarini, Bruno Guimaraes; Furquim, Isabel; Honjo, Rachel Sayuri ; Bertola, Débora Romeo ; Kim, Chong Ae ; Matsumoto, Naomichi
Source: Clinical genetics. Unidade: FM
Subjects: DESENVOLVIMENTO SUSTENTÁVEL, DESENVOLVIMENTO INFANTIL, PSICOMOTRICIDADE
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
IMAGAWA, Eri et al. Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder. Clinical genetics, v. 103, n. 4, p. 383-391, 2023Tradução . . Disponível em: https://observatorio.fm.usp.br/handle/OPI/53027. Acesso em: 18 nov. 2024.
APA
Imagawa, E., Seyama, R., Aoi, H., Uchiyama, Y., Marcarini, B. G., Furquim, I., et al. (2023). Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder. Clinical genetics, 103( 4), 383-391. doi:10.1111/cge.14296
NLM
Imagawa E, Seyama R, Aoi H, Uchiyama Y, Marcarini BG, Furquim I, Honjo RS, Bertola DR, Kim CA, Matsumoto N. Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder [Internet]. Clinical genetics. 2023 ; 103( 4): 383-391.[citado 2024 nov. 18 ] Available from: https://observatorio.fm.usp.br/handle/OPI/53027
Vancouver
Imagawa E, Seyama R, Aoi H, Uchiyama Y, Marcarini BG, Furquim I, Honjo RS, Bertola DR, Kim CA, Matsumoto N. Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder [Internet]. Clinical genetics. 2023 ; 103( 4): 383-391.[citado 2024 nov. 18 ] Available from: https://observatorio.fm.usp.br/handle/OPI/53027
Artigo de periodico
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome (2022)
Lima, Ariadne R.; Ferreira, Barbara M.; Zhang, Chaofan; Jolly, Angad; Du, Haowei ; White, Janson J.; Dawood, Moez; Lins, Tulio C.; Chiabai, Marcela A.; van Beusekom, Ellen; Cordoba, Mara S.; Rosa, Erica C. C. Caldas; Kayserili, Hulya; Kimonis, Virginia; Wu, Erica; Mellado, Cecilia; Aggarwal, Vineet; Richieri-Costa, Antonio ; Brunoni, Décio; Canó, Talyta M.; Jorge, Alexander A. L. ; Kim, Chong Ae ; Honjo, Rachel ; Bertola, Débora R. ; Dandalo-Girardi, Raissa M.; Bayram, Yavuz; Gezdirici, Alper; Yilmaz-Gulec, Elif; Gumus, Evren; Yilmaz, Gülay C.; Okamoto, Nobuhiko ; Ohashi, Hirofumi; Coban–Akdemir, Zeynep; Mitani, Tadahiro; Jhangiani, Shalini N.; Muzny, Donna M.; Regattieri, Neysa A. P. ; Pogue, Robert ; Pereira, Rinaldo W.; Otto, Paulo A ; Gibbs, Richard A.; Ali, Bassam R.; van Bokhoven, Hans; Brunner, Han G.; Sutton, V. Reid; Lupski, James R. ; Vianna-Morgante, Angela M ; Carvalho, Claudia M. B. ; Mazzeu, Juliana F.
Source: Human Mutation. Unidades: HRAC, FM, IB
Subjects: FENÓTIPOS, MORFOLOGIA (ANATOMIA), SEQUENCIAMENTO GENÉTICO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
LIMA, Ariadne R. et al. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Human Mutation, v. 43, n. 7, p. 900-918, 2022Tradução . . Disponível em: https://doi.org/10.1002/humu.24375. Acesso em: 18 nov. 2024.
APA
Lima, A. R., Ferreira, B. M., Zhang, C., Jolly, A., Du, H., White, J. J., et al. (2022). Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Human Mutation, 43( 7), 900-918. doi:10.1002/humu.24375
NLM
Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, White JJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Rosa ECCC, Kayserili H, Kimonis V, Wu E, Mellado C, Aggarwal V, Richieri-Costa A, Brunoni D, Canó TM, Jorge AAL, Kim CA, Honjo R, Bertola DR, Dandalo-Girardi RM, Bayram Y, Gezdirici A, Yilmaz-Gulec E, Gumus E, Yilmaz GC, Okamoto N, Ohashi H, Coban–Akdemir Z, Mitani T, Jhangiani SN, Muzny DM, Regattieri NAP, Pogue R, Pereira RW, Otto PA, Gibbs RA, Ali BR, van Bokhoven H, Brunner HG, Sutton VR, Lupski JR, Vianna-Morgante AM, Carvalho CMB, Mazzeu JF. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome [Internet]. Human Mutation. 2022 ; 43( 7): 900-918.[citado 2024 nov. 18 ] Available from: https://doi.org/10.1002/humu.24375
Vancouver
Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, White JJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Rosa ECCC, Kayserili H, Kimonis V, Wu E, Mellado C, Aggarwal V, Richieri-Costa A, Brunoni D, Canó TM, Jorge AAL, Kim CA, Honjo R, Bertola DR, Dandalo-Girardi RM, Bayram Y, Gezdirici A, Yilmaz-Gulec E, Gumus E, Yilmaz GC, Okamoto N, Ohashi H, Coban–Akdemir Z, Mitani T, Jhangiani SN, Muzny DM, Regattieri NAP, Pogue R, Pereira RW, Otto PA, Gibbs RA, Ali BR, van Bokhoven H, Brunner HG, Sutton VR, Lupski JR, Vianna-Morgante AM, Carvalho CMB, Mazzeu JF. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome [Internet]. Human Mutation. 2022 ; 43( 7): 900-918.[citado 2024 nov. 18 ] Available from: https://doi.org/10.1002/humu.24375

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