Detalhe da pesquisa
1.
An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.
Hum Mutat
; 38(5): 548-555, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28150386
2.
Non-uniform temporal scaling of developmental processes in the mammalian cortex.
Nat Commun
; 14(1): 5950, 2023 09 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37741828
3.
Aicardi Syndrome Is a Genetically Heterogeneous Disorder.
Genes (Basel)
; 14(8)2023 07 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37628618
4.
Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.
Neuron
; 106(3): 404-420.e8, 2020 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32135084
5.
Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX.
Eur J Hum Genet
; 24(5): 681-9, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26306640
6.
Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders.
Eur J Hum Genet
; 24(3): 373-80, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26059843