Detalhe da pesquisa
1.
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
J Med Genet
; 61(2): 132-141, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37580113
2.
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Genet Med
; 25(11): 100938, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37454282
3.
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Genet Med
; 23(5): 881-887, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33473207
4.
Recontacting patients for multigene panel testing in hereditary cancer: Efficacy and insights.
J Genet Couns
; 28(6): 1198-1207, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31553108