Detalhe da pesquisa
1.
Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy.
Am J Med Genet A
; 194(4): e63498, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38129970
2.
Clinical, genetic, and functional characterization of the glycine receptor ß-subunit A455P variant in a family affected by hyperekplexia syndrome.
J Biol Chem
; 298(7): 102018, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35526563
3.
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Genet Med
; 23(11): 2122-2137, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34345025
4.
Leveraging AI Advances and Online Tools for Structure-Based Variant Analysis.
Curr Protoc
; 3(8): e857, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37540795
5.
SPTBN5, Encoding the ßV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures.
Front Mol Neurosci
; 15: 877258, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35782384