Detalhe da pesquisa
1.
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.
Am J Hum Genet
; 95(6): 729-35, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25434005
2.
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.
Am J Hum Genet
; 88(4): 508-15, 2011 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-21473986
3.
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
Am J Hum Genet
; 88(5): 566-73, 2011 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21549341
4.
Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population.
Ann Otol Rhinol Laryngol
; 119(12): 830-5, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21250555
5.
A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family.
Am J Med Genet A
; 149A(3): 555-8, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19215054
6.
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.
Eur J Hum Genet
; 22(6): 741-7, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24105366
7.
Autosomal dominant vasovagal syncope: clinical features and linkage to chromosome 15q26.
Neurology
; 80(16): 1485-93, 2013 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-23589636
8.
Familial adult myoclonic epilepsy: recognition of mild phenotypes and refinement of the 2q locus.
Arch Neurol
; 69(4): 474-81, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22491192
9.
Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes.
Genome Biol
; 12(9): R85, 2011 Sep 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-21917141