A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization. (Record no. 14811039)

MARC details
000 -LEADER
fixed length control field 01615 a2200457 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250514184828.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200412s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0009-9163
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1111/j.0009-9163.2004.00245.x
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 Koolen, D A
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20041230
245 00 - TITLE STATEMENT
Title A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Clinical genetics
Date of publication, distribution, etc. May 2004
300 ## - PHYSICAL DESCRIPTION
Extent 429-32 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Letter; 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 genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Activin Receptors, Type II
General subdivision genetics
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 Cerebral Cortex
General subdivision pathology
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 2
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Face
General subdivision abnormalities
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 Fingers
General subdivision abnormalities
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Hirsutism
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 In Situ Hybridization, Fluorescence
General subdivision methods
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 Toes
General subdivision abnormalities
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vissers, L E L M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nillesen, W
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Smeets, D
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name van Ravenswaaij, C M A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sistermans, E A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Veltman, J A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name de Vries, B B A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name de Vries, B D A
773 0# - HOST ITEM ENTRY
Title Clinical genetics
Related parts vol. 65
-- no. 5
-- p. 429-32
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1111/j.0009-9163.2004.00245.x">https://doi.org/10.1111/j.0009-9163.2004.00245.x</a>
Public note Available from publisher's website

No items available.