Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.
about
Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cellsUtilization of amplicon-based targeted sequencing panel for the massively parallel sequencing of sporadic hearing impairment patients from Saudi ArabiaThe Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani PopulationsIdentification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.Predictive Value of GJB2 Mutation Status for Hearing Outcomes of Pediatric Cochlear Implantation.Mutations of GJB2 encoding connexin 26 contribute to non-syndromic moderate and severe hearing loss in Pakistan.Genetic Linkage Analysis of DFNB3, DFNB9 and DFNB21 Loci in GJB2 Negative Families with Autosomal Recessive Non-syndromic Hearing Loss.Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.Species-dependent splice recognition of a cryptic exon resulting from a recurrent intronic CEP290 mutation that causes congenital blindness.In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery.Reduced Membrane Insertion of CLC-K by V33L Barttin Results in Loss of Hearing, but Leaves Kidney Function Intact.Genetic Testing of Non-familial Deaf Patients for CIB2 and GJB2 Mutations: Phenotype and Genetic Counselling.Design and In Vitro Use of Antisense Oligonucleotides to Correct Pre-mRNA Splicing Defects in Inherited Retinal Dystrophies.Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients.Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family.Identification of Pathogenic Genes of Nonsyndromic Hearing Loss in Uyghur Families Using Massively Parallel DNA Sequencing Technique.Identification of four TMC1 variations in different Chinese families with hereditary hearing loss.
P2860
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P2860
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.
description
2014 nî lūn-bûn
@nan
2014 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.
@ast
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.
@en
type
label
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.
@ast
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.
@en
prefLabel
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.
@ast
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.
@en
P2093
P2860
P50
P1433
P1476
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families
@en
P2093
Alamdar Hussain
Ammad Bilal
Atika Mansoor
Celia Zazo Seco
Hannie Kremer
Humaira Ayub
Jaap Oostrik
Kehkashan Mazhar
Margit Schraders
Raheel Qamar
P2860
P304
P356
10.1371/JOURNAL.PONE.0100146
P407
P577
2014-06-20T00:00:00Z