Detalhe da pesquisa
1.
De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Am J Med Genet A
; 182(5): 962-973, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32031333
2.
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.
Brain
; 142(9): 2617-2630, 2019 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31327001
3.
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.
J Med Genet
; 55(8): 561-566, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28866611
4.
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.
Hum Genet
; 135(7): 699-705, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27048600
5.
A novel maternally inherited 8q24.3 and a rare paternally inherited 14q23.3 CNVs in a family with neurodevelopmental disorders.
Am J Med Genet A
; 167A(8): 1921-6, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25866352
6.
Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts.
J Neurol
; 271(2): 733-747, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37891417
7.
Disparities in Genetic Testing for Neurologic Disorders.
Neurology
; 102(6): e209161, 2024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38447117
8.
Preimplantation Genetic Testing for Adult-Onset Neurodegenerative Disease: Considerations for Access, Utilization, and Counseling.
Neurology
; 101(19): 836-841, 2023 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37596038
9.
Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities.
Eur J Med Genet
; 58(10): 503-8, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26327614
10.
Mutations in ZBTB20 cause Primrose syndrome.
Nat Genet
; 46(8): 815-7, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25017102