Detalhe da pesquisa
1.
Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases.
Am J Med Genet C Semin Med Genet
; 184(4): 955-964, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33258288
2.
Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology.
Hum Genomics
; 11(1): 14, 2017 06 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-28651617
3.
A novel GNRHR gene mutation causing congenital hypogonadotrophic hypogonadism in a Brazilian kindred.
J Neuroendocrinol
; 30(12): e12658, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30415482