Detalhe da pesquisa
1.
A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP.
J Hum Genet
; 61(5): 395-403, 2016 May.
Artigo
Inglês
| MEDLINE | ID: mdl-26740239
2.
Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration.
Proc Natl Acad Sci U S A
; 110(9): 3489-94, 2013 Feb 26.
Artigo
Inglês
| MEDLINE | ID: mdl-23359680
3.
Genetic causes of syndromic and non-syndromic autism.
Dev Med Child Neurol
; 52(2): 130-8, 2010 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-20059518
4.
Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly.
Sci Rep
; 7: 43708, 2017 03 08.
Artigo
Inglês
| MEDLINE | ID: mdl-28272472