Detalhe da pesquisa
1.
Clinical and molecular characterization of a family with autosomal recessive cornea plana.
Arch Ophthalmol
; 123(9): 1248-53, 2005 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-16157807
2.
Mutations in the CACNA1F and NYX genes in British CSNBX families.
Hum Mutat
; 21(2): 169, 2003 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-12552565
3.
Exclusion of four candidate genes, KHDRBS2, PTP4A1, KIAA1411 and OGFRL1, as causative of autosomal recessive retinitis pigmentosa.
Ophthalmic Res
; 38(1): 19-23, 2006.
Artigo
Inglês
| MEDLINE | ID: mdl-16192744
4.
Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7).
Genomics
; 81(3): 304-14, 2003 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-12659814
5.
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.
Hum Mol Genet
; 11(1): 87-92, 2002 Jan 01.
Artigo
Inglês
| MEDLINE | ID: mdl-11773002