Detalhe da pesquisa
1.
A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report.
BMC Med Genet
; 19(1): 118, 2018 07 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30021525
2.
Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report.
J Med Case Rep
; 12(1): 322, 2018 Oct 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30371346
3.
Identification of two novel SH3PXD2B gene mutations in Frank-Ter Haar syndrome by exome sequencing: Case report and review of the literature.
Gene
; 628: 190-193, 2017 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28694206
4.
Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease.
Pediatr Rheumatol Online J
; 15(1): 72, 2017 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-28950892