De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. (Record no. 30896735)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02155 a2200649 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518100555.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202007s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1537-6605 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ajhg.2020.04.001 |
| 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 | Chung, Hyung-Lok |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20200727 |
| 245 00 - TITLE STATEMENT | |
| Title | De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | 05 2020 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 717-725 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| 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 | Amino Acid Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Brain Diseases |
| General subdivision | genetics |
| 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 | Cyclin-Dependent Kinase 8 |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cyclin-Dependent Kinases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Drosophila Proteins |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Drosophila melanogaster |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Epilepsy, Generalized |
| 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 | 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 | Infant, Newborn |
| 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 | Mutation, Missense |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neuromuscular Junction |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Rare Diseases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Seizures |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Syndrome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mao, Xiao |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wang, Hua |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Park, Ye-Jin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marcogliese, Paul C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rosenfeld, Jill A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Burrage, Lindsay C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Liu, Pengfei |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Murdock, David R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yamamoto, Shinya |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wangler, Michael F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chao, Hsiao-Tuan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Long, Hongyu |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Feng, Li |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bacino, Carlos A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bellen, Hugo J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Xiao, Bo |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 106 |
| -- | no. 5 |
| -- | p. 717-725 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2020.04.001">https://doi.org/10.1016/j.ajhg.2020.04.001</a> |
| Public note | Available from publisher's website |
No items available.