Detalhe da pesquisa
1.
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
Hum Genet
; 129(1): 79-90, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21052717
2.
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.
Nat Genet
; 42(10): 840-50, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20835237