Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA). (Record no. 15275733)

MARC details
000 -LEADER
fixed length control field 01676 a2200505 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250514212344.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200510s 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/jmg.2004.023671
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 20051019
245 00 - TITLE STATEMENT
Title Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Journal of medical genetics
Date of publication, distribution, etc. Dec 2004
300 ## - PHYSICAL DESCRIPTION
Extent 892-9 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Evaluation Study; Journal Article; Research Support, Non-U.S. Gov't
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 Female
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Gene Deletion
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Gene Duplication
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Gene Rearrangement
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Testing
General subdivision methods
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
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Infant
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 Molecular Probe Techniques
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Telomere
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nillesen, W M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Versteeg, M H A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Merkx, G F M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Knoers, N V A M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kets, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vermeer, S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name van Ravenswaaij, C M A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name de Kovel, C G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Brunner, H G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Smeets, D
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name de Vries, B B A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sistermans, E A
773 0# - HOST ITEM ENTRY
Title Journal of medical genetics
Related parts vol. 41
-- no. 12
-- p. 892-9
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1136/jmg.2004.023671">https://doi.org/10.1136/jmg.2004.023671</a>
Public note Available from publisher's website

No items available.