Detalhe da pesquisa
1.
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome.
Hum Genet
; 139(11): 1363-1379, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32424618
2.
Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip.
Hum Mutat
; 33(3): 485-7, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22213132
3.
A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip.
Hum Mol Genet
; 19(8): 1413-24, 2010 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20080937
4.
Phenotypic spectrum associated with CASK loss-of-function mutations.
J Med Genet
; 48(11): 741-51, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21954287