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