The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome. (Record no. 20607281)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01665 a2200517 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516024102.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201202s 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.2011.088948 |
| 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 | El Chehadeh-Djebbar, Salima |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20120210 |
| 245 00 - TITLE STATEMENT | |
| Title | The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of medical genetics |
| Date of publication, distribution, etc. | Nov 2011 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | e1 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Letter; Comment |
| 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 | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Vesicular Transport Proteins |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Faivre, Laurence |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Moncla, Anne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Aral, Bernard |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Missirian, Chantal |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Popovici, Cornel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rump, Patrick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Van Essen, Anthonie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Frances, Anne-Marie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gigot, Nadège |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cusin, Veronica |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Masurel-Paulet, Alice |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gueneau, Lucie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Payet, Muriel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ragon, Clémence |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marle, Nathalie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mosca-Boidron, Anne-Laure |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huet, Frédéric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Balikova, Irina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Teyssier, Jean-Raymond |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mugneret, Francine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thauvin-Robinet, Christel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Callier, Patrick |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of medical genetics |
| Related parts | vol. 48 |
| -- | no. 11 |
| -- | p. e1 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/jmg.2011.088948">https://doi.org/10.1136/jmg.2011.088948</a> |
| Public note | Available from publisher's website |
No items available.