Phenotypes of two Dutch DFNA3 families with mutations in GJB2. (Record no. 20775490)

MARC details
000 -LEADER
fixed length control field 01526 a2200445 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516033626.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201105s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0003-4894
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1177/000348941112000308
Source of number or code doi
040 ## - CATALOGING SOURCE
Original cataloging agency NLM
Language of cataloging eng
Transcribing agency NLM
100 1# - MAIN ENTRY--PERSONAL NAME
Personal name Weegerink, Nicole J D
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20110531
245 00 - TITLE STATEMENT
Title Phenotypes of two Dutch DFNA3 families with mutations in GJB2.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. The Annals of otology, rhinology, and laryngology
Date of publication, distribution, etc. Mar 2011
300 ## - PHYSICAL DESCRIPTION
Extent 191-7 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Amino Acid Substitution
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Audiometry, Pure-Tone
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Audiometry, Speech
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Child
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Connexin 26
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Connexins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Female
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Hearing Loss, Sensorineural
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Humans
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Male
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation, Missense
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Netherlands
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Phenotype
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Temporal Bone
General subdivision diagnostic imaging
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Tomography, X-Ray Computed
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Vestibular Function Tests
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pennings, Ronald J E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Huygen, Patrick L M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hoefsloot, Lies H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cremers, Cor W R J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kunst, Henricus P M
773 0# - HOST ITEM ENTRY
Title The Annals of otology, rhinology, and laryngology
Related parts vol. 120
-- no. 3
-- p. 191-7
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1177/000348941112000308">https://doi.org/10.1177/000348941112000308</a>
Public note Available from publisher's website

No items available.