Detalhe da pesquisa
1.
A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism.
Am J Hum Genet
; 109(12): 2253-2269, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36413998
2.
A quality improvement initiative to improve folic acid supplementation counseling for adolescent females with epilepsy.
Epilepsia
; 64(10): 2818-2826, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37496463
3.
Intrafamilial variability in SLC6A1-related neurodevelopmental disorders.
Front Neurosci
; 17: 1219262, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37502687
4.
Corrigendum: Intrafamilial variability in SLC6A1-related neurodevelopmental disorders.
Front Neurosci
; 17: 1270299, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37638311
5.
Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus.
medRxiv
; 2023 Dec 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38234782