De novo copy number variants associated with intellectual disability have a paternal origin and age bias. (Record no. 21205518)

MARC details
000 -LEADER
fixed length control field 01560 a2200457 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516060200.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201202s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1468-6244
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1136/jmedgenet-2011-100147
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 Hehir-Kwa, Jayne Y
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20120210
245 00 - TITLE STATEMENT
Title De novo copy number variants associated with intellectual disability have a paternal origin and age bias.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Journal of medical genetics
Date of publication, distribution, etc. Nov 2011
300 ## - PHYSICAL DESCRIPTION
Extent 776-8 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 Adult
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Alleles
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cohort Studies
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 Gene Dosage
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 epidemiology
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 Netherlands
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Oligonucleotide Array Sequence Analysis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Paternal Age
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Polymorphism, Single Nucleotide
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Segmental Duplications, Genomic
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sex Factors
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Spermatogenesis
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rodríguez-Santiago, Benjamín
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vissers, Lisenka E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name de Leeuw, Nicole
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pfundt, Rolph
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Buitelaar, Jan K
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pérez-Jurado, Luis A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Veltman, Joris A
773 0# - HOST ITEM ENTRY
Title Journal of medical genetics
Related parts vol. 48
-- no. 11
-- p. 776-8
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1136/jmedgenet-2011-100147">https://doi.org/10.1136/jmedgenet-2011-100147</a>
Public note Available from publisher's website

No items available.