Detalhe da pesquisa
1.
Identification of a Novel FOXP1 Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment.
Genes (Basel)
; 14(10)2023 10 18.
Artigo
Inglês
| MEDLINE | ID: mdl-37895307
2.
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.
medRxiv
; 2023 May 26.
Artigo
Inglês
| MEDLINE | ID: mdl-37292616
3.
A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: molecular and functional characterization.
Mol Genet Metab
; 106(4): 455-61, 2012 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-22705348