Detalhe da pesquisa
1.
Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability.
Am J Med Genet A
; 146A(1): 43-50, 2008 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18074359
2.
Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations.
Int J Pediatr Otorhinolaryngol
; 69(2): 165-74, 2005 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-15656949
3.
Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy.
Invest Ophthalmol Vis Sci
; 50(9): 4379-85, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19324841