Detalhe da pesquisa
1.
POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy.
Ann Neurol
; 86(6): 832-843, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31610034
2.
NPHP4 variants are associated with pleiotropic heart malformations.
Circ Res
; 110(12): 1564-74, 2012 Jun 08.
Artigo
Inglês
| MEDLINE | ID: mdl-22550138
3.
Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.
Am J Hum Genet
; 82(4): 809-21, 2008 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-18313022