Detalhe da pesquisa
1.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Genet Med
; 26(2): 101023, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37947183
2.
Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
Brain
; 146(4): 1373-1387, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36200388
3.
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Genet Med
; 23(2): 352-362, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33106617
4.
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.
Genet Med
; 22(8): 1413-1417, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32366965
5.
BDV Syndrome: An Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome.
J Clin Endocrinol Metab
; 106(12): 3413-3427, 2021 11 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34383079
6.
A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel Patient.
Front Genet
; 9: 626, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30631341