De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss.
about
Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.A Comprehensive Study on the Etiology of Patients Receiving Cochlear Implantation With Special Emphasis on Genetic Epidemiology.mirDNMR: a gene-centered database of background de novo mutation rates in human.Navigating genetic diagnostics in patients with hearing loss.HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report.Identification of de novo germline mutations and causal genes for sporadic diseases using trio-based whole-exome/genome sequencing.Frequency and specific characteristics of the incomplete partition type III anomaly in children.Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing lossClinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families
P2860
Q30367238-09A0C5A9-7744-4392-AA54-F290D5E259E8Q30392812-3172491B-A8A1-43BF-979A-F1FD9919B812Q37556733-0ECE4C45-2D3E-4950-B4A9-F53BE10A9C27Q38934723-3F6C774B-582B-4D9A-B9E3-CF5FD1A67E37Q46774319-6BAB8152-FC69-49B6-B465-EAD7D2305198Q47445785-47D8339C-FAC9-42A4-95F5-7DD7F30B57C7Q50422794-947977EE-F6DD-4B51-A3D9-4D292FFB10B1Q57455558-591A259C-B4AB-4D29-8C10-1967A42A5297Q58765599-32F94CD7-6AB5-4961-9F4A-D6C8398F88BB
P2860
De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss.
description
2015 nî lūn-bûn
@nan
2015 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի մարտին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
De novo mutation in X-linked h ...... se of congenital hearing loss.
@ast
De novo mutation in X-linked h ...... se of congenital hearing loss.
@en
type
label
De novo mutation in X-linked h ...... se of congenital hearing loss.
@ast
De novo mutation in X-linked h ...... se of congenital hearing loss.
@en
prefLabel
De novo mutation in X-linked h ...... se of congenital hearing loss.
@ast
De novo mutation in X-linked h ...... se of congenital hearing loss.
@en
P2093
P2860
P356
P1476
De novo mutation in X-linked h ...... se of congenital hearing loss.
@en
P2093
A Eliot Shearer
Christina M Sloan
Diana L Kolbe
Hela Azaiez
Hideaki Moteki
Kevin T Booth
Shin-Ichi Usami
Shuji Izumi
Yamato Kubota
P2860
P304
P356
10.1177/0003489415575042
P478
124 Suppl 1
P577
2015-03-19T00:00:00Z