Cargando…
Exome sequencing of 500 Brazilian patients with rare diseases: what we have learned
Autores principales: | Quaio, Caio Robledo D’Angioli Costa, Moreira, Caroline Monaco, Chung, Christine Hsiaoyun, Perazzio, Sandro Felix, Dutra, Aurelio Pimenta, Kim, Chong Ae |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Associação Paulista de Medicina - APM
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9514873/ https://www.ncbi.nlm.nih.gov/pubmed/36102462 http://dx.doi.org/10.1590/1516-3180.2022.0076.R1.21072022 |
Ejemplares similares
-
Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases
por: Quaio, Caio Robledo D.’Angioli Costa, et al.
Publicado: (2022) -
A clinical follow-up of 35 Brazilian patients with Prader-Willi Syndrome
por: Quaio, Caio Robledo D'Angioli Costa, et al.
Publicado: (2012) -
Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases
por: Quaio, Caio Robledo D’Angioli Costa, et al.
Publicado: (2021) -
Tegumentary manifestations of Noonan and Noonan-related syndromes
por: Quaio, Caio Robledo D'Angioli Costa, et al.
Publicado: (2013) -
Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms’ tumor: two case reports
por: Moreira, Marilia Borges, et al.
Publicado: (2013)