Clinical significance of de novo and inherited copy-number variation. (Record no. 23091061)

MARC details
000 -LEADER
fixed length control field 01645 a2200505 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516171234.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201406s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1098-1004
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1002/humu.22442
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 Vulto-van Silfhout, Anneke T
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20140616
245 00 - TITLE STATEMENT
Title Clinical significance of de novo and inherited copy-number variation.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Human mutation
Date of publication, distribution, etc. Dec 2013
300 ## - PHYSICAL DESCRIPTION
Extent 1679-87 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 Abnormalities, Multiple
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adolescent
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 Mapping
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Computational Biology
General subdivision methods
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA Copy Number Variations
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 Genetic Association Studies
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 Intellectual Disability
General subdivision diagnosis
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 Phenotype
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Polymorphism, Single Nucleotide
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hehir-Kwa, Jayne Y
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name van Bon, Bregje W M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schuurs-Hoeijmakers, Janneke H M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Meader, Stephen
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hellebrekers, Claudia J M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Thoonen, Ilse J M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name de Brouwer, Arjan P M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Brunner, Han G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Webber, Caleb
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pfundt, Rolph
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name de Leeuw, Nicole
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name de Vries, Bert B A
773 0# - HOST ITEM ENTRY
Title Human mutation
Related parts vol. 34
-- no. 12
-- p. 1679-87
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1002/humu.22442">https://doi.org/10.1002/humu.22442</a>
Public note Available from publisher's website

No items available.