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.
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Am J Hum Genet
; 108(10): 2006-2016, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34626583
3.
Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder.
Genes (Basel)
; 15(4)2024 03 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38674358
4.
The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature.
Cold Spring Harb Mol Case Stud
; 9(4)2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38199782
5.
The Impact of X-Chromosome Inactivation on Phenotypic Expression of X-Linked Neurodevelopmental Disorders.
Brain Sci
; 11(7)2021 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34356138
6.
Genetic Counseling in Neurodevelopmental Disorders.
Cold Spring Harb Perspect Med
; 10(4)2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31501260
7.
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Eur J Hum Genet
; 28(10): 1422-1431, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32483341
8.
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Nat Commun
; 10(1): 3094, 2019 07 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31300657
9.
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
Genome Med
; 9(1): 73, 2017 08 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-28807008