Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice. (Record no. 30043671)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02253 a2200673 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518055208.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202006s 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/jmedgenet-2018-105879 |
| 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 | Jønch, Aia Elise |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20200615 |
| 245 00 - TITLE STATEMENT | |
| Title | Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of medical genetics |
| Date of publication, distribution, etc. | 10 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 701-710 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Meta-Analysis; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Autistic Disorder |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Case-Control Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cohort Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Copy Number Variations |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Epilepsy |
| 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 | Heart Diseases |
| General subdivision | congenital |
| 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 | Intellectual Disability |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Loss of Function Mutation |
| 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 | Neurodevelopmental Disorders |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Deletion |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Douard, Elise |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Moreau, Clara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Van Dijck, Anke |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Passeggeri, Marzia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kooy, Frank |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Puechberty, Jacques |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Campbell, Carolyn |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sanlaville, Damien |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lefroy, Henrietta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Richetin, Sonia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pain, Aurelie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Geneviève, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kini, Usha |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Le Caignec, Cédric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lespinasse, James |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Skytte, Anne-Bine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Isidor, Bertrand |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zweier, Christiane |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Caberg, Jean-Hubert |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Delrue, Marie-Ange |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Møller, Rikke Steensbjerre |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bojesen, Anders |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hjalgrim, Helle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brasch-Andersen, Charlotte |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lemyre, Emmanuelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ousager, Lilian Bomme |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jacquemont, Sébastien |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of medical genetics |
| Related parts | vol. 56 |
| -- | no. 10 |
| -- | p. 701-710 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/jmedgenet-2018-105879">https://doi.org/10.1136/jmedgenet-2018-105879</a> |
| Public note | Available from publisher's website |
No items available.