Detalhe da pesquisa
1.
Prevention of premature fusion of calvarial suture in GLI-Kruppel family member 3 (Gli3)-deficient mice by removing one allele of Runt-related transcription factor 2 (Runx2).
J Biol Chem
; 287(25): 21429-38, 2012 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22547067
2.
Noggin null allele mice exhibit a microform of holoprosencephaly.
Hum Mol Genet
; 20(20): 4005-15, 2011 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21821669
3.
RAB23 regulates musculoskeletal development and patterning.
Front Cell Dev Biol
; 11: 1049131, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36910145
4.
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.
Brain Commun
; 5(5): fcad222, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37794925
5.
Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis.
PLoS One
; 16(9): e0255933, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34469436
6.
A high-density association screen of 155 ion transport genes for involvement with common migraine.
Hum Mol Genet
; 17(21): 3318-31, 2008 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18676988
7.
Functional interaction of AIRE with PIAS1 in transcriptional regulation.
Mol Immunol
; 45(7): 1847-62, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18083234
8.
Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients.
Eur J Hum Genet
; 15(2): 185-93, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17003839
9.
Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations.
Eur J Hum Genet
; 13(2): 208-15, 2005 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-15483648
10.
Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.
Nat Genet
; 42(10): 869-73, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20802479