Detalhe da pesquisa
1.
A population-based study of inter-generational attitudes towards consanguineous marriages in north-eastern Brazil.
J Biosoc Sci
; 51(5): 683-697, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30862325
2.
Santos syndrome is caused by mutation in the WNT7A gene.
J Hum Genet
; 62(12): 1073-1078, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28855715
3.
Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family.
Int J Audiol
; 54(9): 593-8, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25926005
4.
Frequency and origin of the c.2090T>G p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing loss.
Eur J Hum Genet
; 30(1): 13-21, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33953343
5.
A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family.
Hum Genome Var
; 2: 15038, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-27081546