Detalhe da pesquisa
1.
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
Am J Hum Genet;
108(12): 2368-2384, 2021 12 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34800363
2.
A biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondrial disease.
J Inherit Metab Dis;
44(2): 388-400, 2021 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32383294
3.
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.
Genome Med;
13(1): 55, 2021 04 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33845882