Detalhe da pesquisa
1.
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
PLoS Genet
; 13(3): e1006683, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28346496
2.
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss.
Hum Genet
; 137(6-7): 479-486, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29982980
3.
Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.
Pediatr Neurol
; 50(5): 482-90, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24656465