Detalhe da pesquisa
1.
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
Hum Mol Genet
; 33(4): 355-373, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37944084
2.
A qualitative assessment of parental experiences with false-positive newborn screening for Krabbe disease.
J Genet Couns
; 31(1): 252-260, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34265137
3.
Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?
J Hum Genet
; 64(6): 561-572, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30858506