Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. (Record no. 19995433)

MARC details
000 -LEADER
fixed length control field 02246 a2200685 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515233048.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201009s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1537-6605
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.ajhg.2010.06.017
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 Whibley, Annabel C
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20100901
245 00 - TITLE STATEMENT
Title Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. American journal of human genetics
Date of publication, distribution, etc. Aug 2010
300 ## - PHYSICAL DESCRIPTION
Extent 173-88 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 Chromosome Breakage
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosome Segregation
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosomes, Human, X
General subdivision genetics
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
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Disease
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 Gene Rearrangement
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genes, X-Linked
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 INDEL Mutation
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Intellectual Disability
General subdivision genetics
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 Oligonucleotide Array Sequence Analysis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pedigree
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Reproducibility of Results
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Retroelements
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sequence Deletion
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Plagnol, Vincent
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tarpey, Patrick S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Abidi, Fatima
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fullston, Tod
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Choma, Maja K
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Boucher, Catherine A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Shepherd, Lorraine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Willatt, Lionel
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Parkin, Georgina
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Smith, Raffaella
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Futreal, P Andrew
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Shaw, Marie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Boyle, Jackie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Licata, Andrea
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Skinner, Cindy
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Stevenson, Roger E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Turner, Gillian
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Field, Michael
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hackett, Anna
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schwartz, Charles E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gecz, Jozef
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Stratton, Michael R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Raymond, F Lucy
773 0# - HOST ITEM ENTRY
Title American journal of human genetics
Related parts vol. 87
-- no. 2
-- p. 173-88
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.ajhg.2010.06.017">https://doi.org/10.1016/j.ajhg.2010.06.017</a>
Public note Available from publisher's website

No items available.