Detalhe da pesquisa
1.
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.
Am J Med Genet A
; 188(9): 2652-2665, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35670379
2.
Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.
Brain
; 144(10): e85, 2021 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34373908
3.
Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B) caused by Pathogenic Splice and Missense Variants of DYSF Gene among Iranians with Muscular Dystrophy.
Adv Biomed Res
; 12: 150, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37564451
4.
Genetic Insights from Consanguineous Cardiomyopathy Families.
Genes (Basel)
; 14(1)2023 01 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36672924
5.
Chloride Channel Mutations Leading to Congenital Myotonia.
Cureus
; 14(12): e32649, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36540316
6.
PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy.
Ann Clin Transl Neurol
; 9(9): 1345-1358, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35880319