Detalhe da pesquisa
1.
SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome.
Brain
; 140(4): 928-939, 2017 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28334855
2.
CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay.
Hum Mol Genet
; 24(22): 6485-91, 2015 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26358778
3.
Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation.
Am J Hum Genet
; 87(6): 820-8, 2010 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21092922