Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome. (Record no. 20072117)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01746 a2200529 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515235535.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201103s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1476-5438 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ejhg.2010.135 |
| 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 | Hawkins, Malcolm |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20110328 |
| 245 00 - TITLE STATEMENT | |
| Title | Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of human genetics : EJHG |
| Date of publication, distribution, etc. | Jan 2011 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 10-7 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: 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 | Cell Line, Transformed |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA |
| 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 | Fragile X Mental Retardation Protein |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fragile X Syndrome |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Testing |
| General subdivision | standards |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Herpesvirus 4, Human |
| 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 | Lymphocytes |
| General subdivision | virology |
| 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 | Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Reference Standards |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | World Health Organization |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boyle, Jennifer |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wright, Kathleen E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Elles, Rob |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ramsden, Simon C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | O'Grady, Anna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sweeney, Michael |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Barton, David E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Burgess, Trent |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Moore, Melanie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Burns, Chris |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stacey, Glyn |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gray, Elaine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Metcalfe, Paul |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hawkins, J Ross |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of human genetics : EJHG |
| Related parts | vol. 19 |
| -- | no. 1 |
| -- | p. 10-7 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ejhg.2010.135">https://doi.org/10.1038/ejhg.2010.135</a> |
| Public note | Available from publisher's website |
No items available.