Detalhe da pesquisa
1.
Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss.
Clin Genet
; 98(1): 32-42, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32279305
2.
Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration.
FASEB J
; 33(10): 11507-11527, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31345061
3.
First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene.
J Transl Med
; 17(1): 351, 2019 10 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31655630
4.
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
Nat Genet
; 40(9): 1113-8, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18711368
5.
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.
Hum Genet
; 134(7): 691-704, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25893793
6.
Enrichment of target sequences for next-generation sequencing applications in research and diagnostics.
Biol Chem
; 395(2): 231-7, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24013102
7.
Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors.
JCI Insight
; 8(22)2023 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37796616
8.
De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.
HGG Adv
; 3(3): 100111, 2022 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35571680
9.
A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia.
Orphanet J Rare Dis
; 10: 84, 2015 Jun 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-26105076
10.
Gsdma3(I359N) is a novel ENU-induced mutant mouse line for studying the function of Gasdermin A3 in the hair follicle and epidermis.
J Dermatol Sci
; 67(3): 190-2, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22682752
11.
Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene.
PLoS One
; 2(12): e1362, 2007 Dec 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-18159245
12.
Genes from Chagas susceptibility loci that are differentially expressed in T. cruzi-resistant mice are candidates accounting for impaired immunity.
PLoS One
; 1: e57, 2006 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-17183687