Detalhe da pesquisa
1.
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A).
Hum Mutat
; 41(10): 1761-1774, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32652677
2.
Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.
Am J Hum Genet
; 98(6): 1235-1242, 2016 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27259054
3.
Autism and anxiety in males with fragile X syndrome: an exploratory analysis of neurobehavioral profiles from a parent survey.
Am J Med Genet A
; 164A(5): 1198-203, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24664669
4.
Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites.
Sci Adv
; 9(7): eade4814, 2023 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36800428
5.
Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder.
HGG Adv
; 2(2)2021 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33880452
6.
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder.
Neurol Genet
; 7(1): e551, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33728377
7.
The behavioral phenotype of FMR1 mutations.
Am J Med Genet C Semin Med Genet
; 154C(4): 469-76, 2010 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20981777