Detalhe da pesquisa
1.
El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.
Clin Genet
; 101(5-6): 530-540, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35322404
2.
Neonatal seizures: Etiologies, clinical characteristics, and radiological features: A cross-sectional study.
Medicine (Baltimore)
; 102(37): e35185, 2023 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37713864
3.
Uridine monophosphate (UMP)-responsive developmental and epileptic encephalopathy: A case report of two siblings and a review of literature.
Mol Genet Metab Rep
; 30: 100835, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35242569