De novo variants in neurodevelopmental disorders with epilepsy. (Record no. 28568859)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02010 a2200649 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517224004.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201904s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1546-1718 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/s41588-018-0143-7 |
| 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 | Heyne, Henrike O |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20190424 |
| 245 00 - TITLE STATEMENT | |
| Title | De novo variants in neurodevelopmental disorders with epilepsy. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Nature genetics |
| Date of publication, distribution, etc. | 07 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1048-1053 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 | Epilepsy |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| 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 | Genetic Predisposition to Disease |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Testing |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Variation |
| General subdivision | genetics |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neurodevelopmental Disorders |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Singh, Tarjinder |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stamberger, Hannah |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Abou Jamra, Rami |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Caglayan, Hande |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Craiu, Dana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | De Jonghe, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guerrini, Renzo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Helbig, Katherine L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Koeleman, Bobby P C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kosmicki, Jack A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Linnankivi, Tarja |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | May, Patrick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Muhle, Hiltrud |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Møller, Rikke S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Neubauer, Bernd A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Palotie, Aarno |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pendziwiat, Manuela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Striano, Pasquale |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tang, Sha |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wu, Sitao |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Poduri, Annapurna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Weber, Yvonne G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Weckhuysen, Sarah |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sisodiya, Sanjay M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Daly, Mark J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Helbig, Ingo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lal, Dennis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lemke, Johannes R |
| 773 0# - HOST ITEM ENTRY | |
| Title | Nature genetics |
| Related parts | vol. 50 |
| -- | no. 7 |
| -- | p. 1048-1053 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/s41588-018-0143-7">https://doi.org/10.1038/s41588-018-0143-7</a> |
| Public note | Available from publisher's website |
No items available.