Detalhe da pesquisa
1.
Mutation spectrum and polygenic score in German patients with familial hypercholesterolemia.
Clin Genet
; 98(5): 457-467, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32770674
2.
CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait.
PLoS Genet
; 5(5): e1000487, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19461874
3.
Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing.
Electrophoresis
; 28(23): 4295-301, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18041031
4.
Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes.
Arthritis Rheum
; 48(9): 2632-44, 2003 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-13130484