The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study. (Record no. 29165307)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02227 a2200721 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518013431.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201905s 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/s41431-018-0299-8 |
| 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 | Papuc, Sorina M |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20190520 |
| 245 00 - TITLE STATEMENT | |
| Title | The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of human genetics : EJHG |
| Date of publication, distribution, etc. | 03 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 408-421 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 | Adolescent |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child, Preschool |
| 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 | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| 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 | Genes, Recessive |
| 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 | Infant |
| 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 Rate |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome Sequencing |
| General subdivision | methods |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Abela, Lucia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Steindl, Katharina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Begemann, Anaïs |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Simmons, Thomas L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schmitt, Bernhard |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zweier, Markus |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oneda, Beatrice |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Socher, Eileen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Crowther, Lisa M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wohlrab, Gabriele |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gogoll, Laura |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Poms, Martin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Seiler, Michelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Papik, Michael |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baldinger, Rosa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baumer, Alessandra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Asadollahi, Reza |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kroell-Seger, Judith |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schmid, Regula |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Iff, Tobias |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schmitt-Mechelke, Thomas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Otten, Karoline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hackenberg, Annette |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Addor, Marie-Claude |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Klein, Andrea |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Azzarello-Burri, Silvia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sticht, Heinrich |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Joset, Pascal |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Plecko, Barbara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rauch, Anita |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of human genetics : EJHG |
| Related parts | vol. 27 |
| -- | no. 3 |
| -- | p. 408-421 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/s41431-018-0299-8">https://doi.org/10.1038/s41431-018-0299-8</a> |
| Public note | Available from publisher's website |
No items available.