Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients. (Record no. 22121223)

MARC details
000 -LEADER
fixed length control field 01804 a2200505 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516112629.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201308s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1530-0366
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1038/gim.2012.120
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 Vergult, Sarah
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20130816
245 00 - TITLE STATEMENT
Title Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Genetics in medicine : official journal of the American College of Medical Genetics
Date of publication, distribution, etc. Mar 2013
300 ## - PHYSICAL DESCRIPTION
Extent 195-202 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 Duplication
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosomes, Human, Pair 10
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosomes, Human, Pair 7
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Comparative Genomic Hybridization
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element F-Box Proteins
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 Humans
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 Radiography
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Upper Extremity Deformities, Congenital
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element rac1 GTP-Binding Protein
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hoogeboom, A Jeannette M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bijlsma, Emilia K
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sante, Tom
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Klopocki, Eva
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name De Wilde, Bram
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Jongmans, Marjolijn
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Thiel, Christian
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Verheij, Joke B G M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Perez-Aytes, Antonio
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Van Esch, Hilde
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kuechler, Alma
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Barge-Schaapveld, Daniela Q C M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sznajer, Yves
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mortier, Geert
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Menten, Björn
773 0# - HOST ITEM ENTRY
Title Genetics in medicine : official journal of the American College of Medical Genetics
Related parts vol. 15
-- no. 3
-- p. 195-202
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1038/gim.2012.120">https://doi.org/10.1038/gim.2012.120</a>
Public note Available from publisher's website

No items available.