Detalhe da pesquisa
1.
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
PLoS Genet
; 14(11): e1007671, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30500825
2.
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
Am J Hum Genet
; 98(5): 1001-1010, 2016 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27108799
3.
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
Am J Med Genet A
; 176(11): 2259-2275, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30194818
4.
Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.
Am J Med Genet A
; 173(12): 3158-3164, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28941020
5.
4q12-4q21.21 deletion genotype-phenotype correlation and the absence of piebaldism in presence of KIT haploinsufficiency.
Am J Med Genet A
; 167A(1): 231-7, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25355368
6.
Domain-Specific Cognitive Impairments in Humans and Flies With Reduced CYFIP1 Dosage.
Biol Psychiatry
; 86(4): 306-314, 2019 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31202490