Detalhe da pesquisa
1.
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.
Nat Genet
; 39(9): 1127-33, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17704778
2.
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.
Nat Genet
; 40(6): 776-81, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18469813