Twins with mental retardation and an interstitial deletion 7q34q36.2 leading to the diagnosis of long QT syndrome. (Record no. 16083280)

MARC details
000 -LEADER
fixed length control field 01530 a2200433 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515014609.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200605s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1552-4825
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1002/ajmg.a.31130
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 Bisgaard, Anne-Marie
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20060530
245 00 - TITLE STATEMENT
Title Twins with mental retardation and an interstitial deletion 7q34q36.2 leading to the diagnosis of long QT syndrome.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. American journal of medical genetics. Part A
Date of publication, distribution, etc. Mar 2006
300 ## - PHYSICAL DESCRIPTION
Extent 644-8 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Letter
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Abnormalities, Multiple
General subdivision genetics
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 Child, Preschool
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosome Banding
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosome Deletion
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosomes, Human, Pair 7
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Diseases in Twins
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 Genome, Human
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Hearing Loss, Sensorineural
General subdivision pathology
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 Hyperopia
General subdivision pathology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Intellectual Disability
General subdivision pathology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Karyotyping
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Long QT Syndrome
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Nucleic Acid Hybridization
General subdivision methods
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rackauskaite, Gija
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Thelle, Thomas
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kirchhoff, Maria
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bryndorf, Thue
773 0# - HOST ITEM ENTRY
Title American journal of medical genetics. Part A
Related parts vol. 140
-- no. 6
-- p. 644-8
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1002/ajmg.a.31130">https://doi.org/10.1002/ajmg.a.31130</a>
Public note Available from publisher's website

No items available.