Detalhe da pesquisa
1.
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Am J Hum Genet
; 110(8): 1414-1435, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37541189
2.
Conserved UBE3A subcellular distribution between human and mice is facilitated by non-homologous isoforms.
Hum Mol Genet
; 29(18): 3032-3043, 2020 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32879944
3.
Identifying the temporal electrophysiological and molecular changes that contribute to TSC-associated epileptogenesis.
JCI Insight
; 6(23)2021 12 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34877936
4.
Beyond the Exome: The Non-coding Genome and Enhancers in Neurodevelopmental Disorders and Malformations of Cortical Development.
Front Cell Neurosci
; 13: 352, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31417368