Detalhe da pesquisa
1.
Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network.
Cell
; 154(3): 518-29, 2013 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23911319
2.
Genomic analysis of inherited hearing loss in the Palestinian population.
Proc Natl Acad Sci U S A
; 117(33): 20070-20076, 2020 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32747562
3.
Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease.
Proc Natl Acad Sci U S A
; 111(51): 18285-90, 2014 Dec 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-25422467
4.
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.
Am J Hum Genet
; 90(6): 1088-93, 2012 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-22578326
5.
Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.
Am J Hum Genet
; 91(5): 872-82, 2012 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23122586
6.
Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.
Am J Hum Genet
; 87(1): 90-4, 2010 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-20602914
7.
Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.
Am J Hum Genet
; 87(1): 101-9, 2010 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-20602916
8.
A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.
Am J Hum Genet
; 86(5): 797-804, 2010 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-20451170
9.
Reply to Tzoulis et al.: Genetic and clinical heterogeneity of essential tremor.
Proc Natl Acad Sci U S A
; 112(18): E2269, 2015 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25825780
10.
Calcium oxalate stone formation in the inner ear as a result of an Slc26a4 mutation.
J Biol Chem
; 285(28): 21724-35, 2010 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-20442411
11.
A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA.
Mamm Genome
; 22(3-4): 170-7, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21165622
12.
Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84.
J Med Genet
; 47(9): 643-5, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20472657
13.
Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.
Hum Genomics
; 2(4): 203-11, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16460646
14.
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families.
Genome Biol
; 12(9): R89, 2011 Sep 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-21917145
15.
Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families.
Eur J Hum Genet
; 18(4): 407-13, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19888295
16.
Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss.
Am J Hum Genet
; 78(1): 144-52, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16385458
17.
Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East.
Hum Genet
; 110(3): 284-9, 2002 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-11935342
18.
From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30.
Proc Natl Acad Sci U S A
; 99(11): 7518-23, 2002 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-12032315