Detalhe da pesquisa
1.
A human importin-ß-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.
Am J Hum Genet
; 108(6): 1115-1125, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34010605
2.
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Brain
; 146(8): 3273-3288, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36757831
3.
Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities.
Genet Med
; 25(2): 100332, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36520152
4.
ECEL1 novel mutation in arthrogryposis type 5D: A molecular dynamic simulation study.
Mol Genet Genomic Med
; 11(6): e2153, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36794879
5.
High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases.
Front Pediatr
; 10: 974840, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36245711
6.
Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism.
Neuromuscul Disord
; 30(7): 583-589, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32522499