Detalles de la búsqueda
1.
A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability.
Neurogenetics
; 24(4): 251-262, 2023 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-37525067
2.
Understanding the impact of ZBTB18 missense variation on transcription factor function in neurodevelopment and disease.
J Neurochem
; 161(3): 219-235, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35083747
3.
General population ZBTB18 missense variants influence DNA binding and transcriptional regulation.
Hum Mutat
; 41(9): 1629-1644, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32598555
4.
Disease-associated missense variants in ZBTB18 disrupt DNA binding and impair the development of neurons within the embryonic cerebral cortex.
Hum Mutat
; 40(10): 1841-1855, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31112317
5.
Brain-Enriched Coding and Long Non-coding RNA Genes Are Overrepresented in Recurrent Neurodevelopmental Disorder CNVs.
Cell Rep
; 33(4): 108307, 2020 10 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-33113368
6.
Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance.
Mol Genet Genomic Med
; 7(2): e00507, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30614210
7.
De Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiation.
Cell Rep
; 15(10): 2251-2265, 2016 06 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-27239039
Resultados
1 -
7
de 7
1
Próxima >
>>