Detalhe da pesquisa
1.
QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum.
Clin Genet
; 99(1): 199-207, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33009816
2.
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures.
Brain
; 142(11): 3351-3359, 2019 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31504246
3.
Polymorphisms in genes encoding leptin, ghrelin and their receptors in German multiple sclerosis patients.
Mol Cell Probes
; 25(5-6): 255-9, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21664965
4.
Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects.
Nat Commun
; 10(1): 2966, 2019 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273213
5.
A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature.
Mol Syndromol
; 7(1): 26-31, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27194970