Detalhe da pesquisa
1.
Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region.
J Med Genet
; 59(1): 46-55, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33257509
2.
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
Brain
; 139(Pt 3): 674-91, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26700687
3.
Curation and bioinformatic analysis of strabismus genes supports functional heterogeneity and proposes candidate genes with connections to RASopathies.
Gene
; 697: 213-226, 2019 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-30772522
4.
Strabismus in Children With Intellectual Disability: Part of a Broader Motor Control Phenotype?
Pediatr Neurol
; 100: 87-91, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31492586
5.
Portal for Families Overcoming Neurodevelopmental Disorders (PFOND): Implementation of a Software Framework for Facilitated Community Website Creation by Nontechnical Volunteers.
JMIR Res Protoc
; 2(2): e25, 2013 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-23920006