Detalhe da pesquisa
1.
Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients.
Am J Med Genet C Semin Med Genet
; 187(3): 364-372, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34269512
2.
Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases.
Genet Mol Biol
; 44(4): 20210061, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34609444
3.
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
Inglês
| MEDLINE | ID: mdl-33258288
4.
BRCA1 deficiency is a recurrent event in early-onset triple-negative breast cancer: a comprehensive analysis of germline mutations and somatic promoter methylation.
Breast Cancer Res Treat
; 167(3): 803-814, 2018 02.
Artigo
Inglês
| MEDLINE | ID: mdl-29116469
5.
Alert for the high prevalence of vitamin D deficiency in adolescents in a large Brazilian sample.
J Pediatr (Rio J)
; 100(4): 360-366, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38462231
6.
Increasing evidence for the presence of alternative proteins in human tissues and cell lines
Appl. cancer res
; 37: 1-6, 2017. tab, ilus
Artigo
Inglês
| LILACS, Inca | ID: biblio-911548