About: Sex-Related Hearing Impairment in Wolfram Syndrome Patients Identified by Inactivating WFS1 Mutations

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About: Sex-Related Hearing Impairment in Wolfram Syndrome Patients Identified by Inactivating WFS1 Mutations Goto Sponge NotDistinct Permalink

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scientific article published on 01 January 2004

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) 2004 թվականին հրատարակված գիտական հոդված (hy) наукова стаття, опублікована в грудні 2003 (uk) im Januar 2004 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en xineru de 2004 (ast) artikull shkencor i botuar më 01 janar 2004 (sq) scientific article published on 01 January 2004 (en)
publication date	wds:Q62936695-540B4CE0-B494-4CE9-9034-E8262A88526F
publication date	2004-01-01 00:00:00Z (xsd:dateTime)
author name string	wds:Q62936695-086C24ED-73BF-4F74-9339-B59214D27105 wds:Q62936695-2ED58EF9-5843-457B-A36A-D4F7D5AB844C wds:Q62936695-5FA3C71D-183A-477E-A8BA-C610E2FA5C34 wds:Q62936695-6F5E7771-7FAF-4359-8487-FF2042D4C7BC wds:Q62936695-80FE377F-C319-4CD2-BCB4-4F15C26F8C04
author name string	Patrick L M Huygen Kim Cryns Ronald J E Pennings Lambert D Dikkeschei Jody M W van den Ouweland
rdfs:label	Sex-Related Hearing Impairment in Wolfram Syndrome Patients Identified by Inactivating WFS1 Mutations (en) Sex-Related Hearing Impairment in Wolfram Syndrome Patients Identified by Inactivating WFS1 Mutations (nl) Sex-Related Hearing Impairment in Wolfram Syndrome Patients Identified by Inactivating WFS1 Mutations (sq)
skos:prefLabel	Sex-Related Hearing Impairment in Wolfram Syndrome Patients Identified by Inactivating WFS1 Mutations (en) Sex-Related Hearing Impairment in Wolfram Syndrome Patients Identified by Inactivating WFS1 Mutations (nl) Sex-Related Hearing Impairment in Wolfram Syndrome Patients Identified by Inactivating WFS1 Mutations (sq)
name	Sex-Related Hearing Impairment in Wolfram Syndrome Patients Identified by Inactivating WFS1 Mutations (en) Sex-Related Hearing Impairment in Wolfram Syndrome Patients Identified by Inactivating WFS1 Mutations (nl) Sex-Related Hearing Impairment in Wolfram Syndrome Patients Identified by Inactivating WFS1 Mutations (sq)
author	wds:Q62936695-6B6EFB4A-4396-4A43-BABD-C068F7C7C5CA wds:Q62936695-B4560220-6817-4DF4-9739-01FFE9C2A2D5
author	Guy Van Camp Cor W. R. J. Cremers
title	wds:Q62936695-713149BE-914A-4334-BCC1-3C4ED9193656
title	Sex-related hearing impairment in Wolfram syndrome patients identified by inactivating WFS1 mutations (en)
page(s)	wds:Q62936695-4932332A-C3D4-4A03-A0A6-BB92D3B31940
page(s)	51-62
instance of	wds:Q62936695-C28B977B-1400-44D8-82E3-3982E549CAF8
instance of	scholarly article
main subject	wds:Q62936695-13FEBE08-1DFD-4E58-B6CF-10B291A38FFF wds:Q62936695-763A50E9-ED00-46F1-8D78-F47BC98B27EE
main subject	hearing loss Wolfram syndrome
PubMed ID	wds:Q62936695-B5552354-688A-4A9B-8408-D915A242866A
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/14676474
PubMed ID	14676474
published in	wds:Q62936695-A2F08C60-57AA-4F71-8A35-EE3D9075CAC0
published in	Audiology and Neuro-Otology
issue	wds:Q62936695-A57B7E2F-A6B1-49F3-9477-69EDFD4AFB48
volume	wds:Q62936695-B34E7FA0-9093-4D78-92A3-FB7B136A812D
issue	1
volume	9
DOI	wds:Q62936695-9368E7A1-78A7-4352-B9DE-141F5A541B7D
DOI	http://dx.doi.org/10.1159/000074187
DOI	10.1159/000074187
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q62936695
is cites work of	Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese Wolfram syndrome: a clinicopathologic correlation Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility. Audiologic and vestibular findings in Wolfram syndrome Longitudinal hearing loss in Wolfram syndrome. A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report. Diabetes mellitus, diabetes insipidus, optic atrophy, and deafness: A case of Wolfram (DIDMOAD) syndrome Wolfram syndrome, a rare neurodegenerative disease: from pathogenesis to future treatment perspectives
is cites work of	wds:Q24305234-24712E92-E3A5-42C4-86DA-9C2316A01F11 wds:Q42453835-3A29E4FC-BEB7-4981-BCA4-CE33F6CC2D64 wds:Q55428316-1C9E8469-3C2F-42C2-BDBD-AA9A71C9B24F wds:Q30426994-D6EB7165-9037-4213-B435-08ACAA712ED1 wds:Q36611949-D799E80A-FE72-4B5D-9ED7-06A8DF4CD8CB wds:Q33339750-7B60499D-8A06-41C3-BF77-413C9750EDF6 wds:Q52650917-B5C4EB7F-7BC1-4C29-80CA-18D062362D54 wds:Q88724954-57FD5492-DC2F-40F7-B655-F0BE3AD3E3BF wds:Q33285317-2F6D52E3-0794-4A53-906E-94B026857CD6 wds:Q36938313-43B13E11-52AB-46D4-865E-EEAF56BBCC3F wds:Q92131965-F4AC13B7-2FCC-48A4-9759-95B1AAB27A11

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