Detalhe da pesquisa
1.
Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.
Clin Genet
; 90(4): 378-82, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27272408
2.
Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.
Clin Genet
; 86(2): 142-8, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23889335