Detalhe da pesquisa
1.
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.
Brain;
144(9): 2659-2669, 2021 10 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34415322
2.
Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution.
Mol Genet Metab;
131(3): 349-357, 2020 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33153867