ReP USP - Resultado da busca

Artigo de periodico
The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: broadening the clinical phenotype (2017)
Bertola, Débora; Yamamoto, Guilherme; Buscarilli, Michelle; Jorge, Alexander; Passos-Bueno, Maria Rita ; Kim, Chong Ae
Source: American Journal of Medical Genetics. Part A. Unidades: IB, FM
Subjects: MUTAÇÃO GENÉTICA, FENÓTIPOS, CROMOSSOMO X, PERDA AUDITIVA, ANORMALIDADES CRANIOFACIAIS, OSSOS FACIAIS, FISSURA PALATINA, DOENÇAS GENÉTICAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
BERTOLA, Débora et al. The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: broadening the clinical phenotype. American Journal of Medical Genetics. Part A, v. 173, n. 3, p. 524-828, 2017Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.38070. Acesso em: 22 ago. 2024.
APA
Bertola, D., Yamamoto, G., Buscarilli, M., Jorge, A., Passos-Bueno, M. R., & Kim, C. A. (2017). The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: broadening the clinical phenotype. American Journal of Medical Genetics. Part A, 173( 3), 524-828. doi:10.1002/ajmg.a.38070
NLM
Bertola D, Yamamoto G, Buscarilli M, Jorge A, Passos-Bueno MR, Kim CA. The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: broadening the clinical phenotype [Internet]. American Journal of Medical Genetics. Part A. 2017 ; 173( 3): 524-828.[citado 2024 ago. 22 ] Available from: https://doi.org/10.1002/ajmg.a.38070
Vancouver
Bertola D, Yamamoto G, Buscarilli M, Jorge A, Passos-Bueno MR, Kim CA. The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: broadening the clinical phenotype [Internet]. American Journal of Medical Genetics. Part A. 2017 ; 173( 3): 524-828.[citado 2024 ago. 22 ] Available from: https://doi.org/10.1002/ajmg.a.38070
Artigo de periodico
Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities (2017)
Sobreira, Nara; Bertola, Debora; Kim, Chong Ae
Source: European journal of human genetics. Unidades: IB, FM
Subjects: DOENÇAS GENÉTICAS, METILAÇÃO DE DNA, FENÓTIPOS, GENÓTIPOS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SOBREIRA, Nara e BERTOLA, Debora e KIM, Chong Ae. Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities. European journal of human genetics, v. 25, n. 12, p. 1335-1344, 2017Tradução . . Disponível em: https://doi.org/10.1038/s41431-017-0023-0. Acesso em: 22 ago. 2024.
APA
Sobreira, N., Bertola, D., & Kim, C. A. (2017). Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities. European journal of human genetics, 25( 12), 1335-1344. doi:10.1038/s41431-017-0023-0
NLM
Sobreira N, Bertola D, Kim CA. Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities [Internet]. European journal of human genetics. 2017 ; 25( 12): 1335-1344.[citado 2024 ago. 22 ] Available from: https://doi.org/10.1038/s41431-017-0023-0
Vancouver
Sobreira N, Bertola D, Kim CA. Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities [Internet]. European journal of human genetics. 2017 ; 25( 12): 1335-1344.[citado 2024 ago. 22 ] Available from: https://doi.org/10.1038/s41431-017-0023-0
Artigo de periodico
Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome (2017)
Soares, Diogo C.; Stroparo, Mariana N.; Lian, Yu C.; Takakura, Cristina Y.; Wolf, Sabrina; Betz, Regina; Kim, Chong A.
Source: Journal of Inherited Metabolic Disease. Unidade: FM
Subjects: MUTAÇÃO GENÉTICA, DOENÇAS GENÉTICAS, BRASIL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SOARES, Diogo C. et al. Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome. Journal of Inherited Metabolic Disease, v. 40, n. , p. 461-462, 2017Tradução . . Disponível em: https://doi.org/10.1007%2Fs10545-016-9996-z. Acesso em: 22 ago. 2024.
APA
Soares, D. C., Stroparo, M. N., Lian, Y. C., Takakura, C. Y., Wolf, S., Betz, R., & Kim, C. A. (2017). Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome. Journal of Inherited Metabolic Disease, 40( ), 461-462. doi:10.1007%2Fs10545-016-9996-z
NLM
Soares DC, Stroparo MN, Lian YC, Takakura CY, Wolf S, Betz R, Kim CA. Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome [Internet]. Journal of Inherited Metabolic Disease. 2017 ; 40( ): 461-462.[citado 2024 ago. 22 ] Available from: https://doi.org/10.1007%2Fs10545-016-9996-z
Vancouver
Soares DC, Stroparo MN, Lian YC, Takakura CY, Wolf S, Betz R, Kim CA. Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome [Internet]. Journal of Inherited Metabolic Disease. 2017 ; 40( ): 461-462.[citado 2024 ago. 22 ] Available from: https://doi.org/10.1007%2Fs10545-016-9996-z
Artigo de periodico
Lower urinary tract symptoms in children and adolescents with WilliamsBeuren syndrome (2017)
Samour, Z. M.; Bessa Jr., J. de; Bruschini, H; Hisano, J.; Kim, C. A.; Srougi, M.; Gomes, C. M.
Source: Journal of Pediatric Urology. Unidade: FM
Subjects: CRIANÇAS, DOENÇAS GENÉTICAS, ADOLESCENTES, ESTUDOS DE COORTES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SAMOUR, Z. M. et al. Lower urinary tract symptoms in children and adolescents with WilliamsBeuren syndrome. Journal of Pediatric Urology, v. 13, n. 2, p. 203.e1-203.e6, 2017Tradução . . Disponível em: https://doi.org/10.1016/j.jpurol.2016.10.003. Acesso em: 22 ago. 2024.
APA
Samour, Z. M., Bessa Jr., J. de, Bruschini, H., Hisano, J., Kim, C. A., Srougi, M., & Gomes, C. M. (2017). Lower urinary tract symptoms in children and adolescents with WilliamsBeuren syndrome. Journal of Pediatric Urology, 13( 2), 203.e1-203.e6. doi:10.1016/j.jpurol.2016.10.003
NLM
Samour ZM, Bessa Jr. J de, Bruschini H, Hisano J, Kim CA, Srougi M, Gomes CM. Lower urinary tract symptoms in children and adolescents with WilliamsBeuren syndrome [Internet]. Journal of Pediatric Urology. 2017 ; 13( 2): 203.e1-203.e6.[citado 2024 ago. 22 ] Available from: https://doi.org/10.1016/j.jpurol.2016.10.003
Vancouver
Samour ZM, Bessa Jr. J de, Bruschini H, Hisano J, Kim CA, Srougi M, Gomes CM. Lower urinary tract symptoms in children and adolescents with WilliamsBeuren syndrome [Internet]. Journal of Pediatric Urology. 2017 ; 13( 2): 203.e1-203.e6.[citado 2024 ago. 22 ] Available from: https://doi.org/10.1016/j.jpurol.2016.10.003

USP Schools

ReP

Filtros

Authors

USP affiliated authors

Subjects