Detalhe da pesquisa
1.
Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome.
Am J Hum Genet
; 109(7): 1217-1241, 2022 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35675825
2.
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Brain
; 147(4): 1436-1456, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37951597
3.
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 338-355, 2020 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32109419
4.
A novel adeno-associated virus capsid with enhanced neurotropism corrects a lysosomal transmembrane enzyme deficiency.
Brain
; 141(7): 2014-2031, 2018 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29788236
5.
CRISPR/Cas9 Gene Disruption Studies in F0 Xenopus Tadpoles: Understanding Development and Disease in the Frog.
Methods Mol Biol
; 2633: 111-130, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36853461
6.
Anaplastic lymphoma kinase (alk), a neuroblastoma associated gene, is expressed in neural crest domains during embryonic development of Xenopus.
Gene Expr Patterns
; 40: 119183, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34020009
7.
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly.
Genome Med
; 13(1): 34, 2021 02 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33632302