Detalhe da pesquisa
1.
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
Am J Hum Genet
; 102(5): 744-759, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29656859
2.
Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment.
Hum Mutat
; 37(8): 786-93, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27120018
3.
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
4.
Serum response factor: positive and negative regulation of an epithelial gene expression network in the destrin mutant cornea.
Physiol Genomics
; 46(8): 277-89, 2014 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24550211
5.
Genetic modification of corneal neovascularization in Dstn (corn1) mice.
Mamm Genome
; 24(9-10): 349-57, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23929036
6.
Differences in corneal phenotypes between destrin mutants are due to allelic difference and modified by genetic background.
Mol Vis
; 18: 606-16, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22419854