Detalhe da pesquisa
1.
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
J Med Genet
; 46(3): 183-91, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18930999
2.
Familial cortical myoclonic tremor with epilepsy (FCMTE): Clinical characteristics and exclusion of linkages to 8q and 2p in a large French family.
Rev Neurol (Paris)
; 165(10): 812-20, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19616813
3.
Autism, language delay and mental retardation in a patient with 7q11 duplication.
J Med Genet
; 44(7): 452-8, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17400790
4.
Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.
Transl Psychiatry
; 2: e179, 2012 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-23092983
5.
A novel DCC mutation and genetic heterogeneity in congenital mirror movements.
Neurology
; 76(3): 260-4, 2011 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-21242494
6.
Familial cortical myoclonic tremor with epilepsy: the third locus (FCMTE3) maps to 5p.
Neurology
; 74(24): 2000-3, 2010 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20548044
7.
Autism, language delay and mental retardation in a patient with 7q11 duplication.
BMJ Case Rep
; 20092009.
Artigo
em Inglês
| MEDLINE | ID: mdl-21686962
8.
The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V.
Neurology
; 66(11): 1721-6, 2006 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-16769947