De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review. (Record no. 28037580)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02146 a2200709 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517200306.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201909s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1399-0004 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1111/cge.13225 |
| 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 | van den Akker, W M R |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20190925 |
| 245 00 - TITLE STATEMENT | |
| Title | De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Clinical genetics |
| Date of publication, distribution, etc. | 05 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1000-1007 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 | CDC2 Protein Kinase |
| General subdivision | genetics |
| 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 | Codon, Nonsense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Developmental Disabilities |
| 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 Association Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Predisposition to Disease |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Heart Defects, Congenital |
| 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 | Middle Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| 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 | RNA Splice Sites |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brummelman, I |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martis, L M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Timmermans, R N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pfundt, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kleefstra, T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Willemsen, M H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gerkes, E H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Herkert, J C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Essen, A J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rump, P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vansenne, F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Terhal, P A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Haelst, M M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cristian, I |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Turner, C E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cho, M T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Begtrup, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Willaert, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fassi, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Gassen, K L I |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stegmann, A P A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Vries, B B A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schuurs-Hoeijmakers, J H M |
| 773 0# - HOST ITEM ENTRY | |
| Title | Clinical genetics |
| Related parts | vol. 93 |
| -- | no. 5 |
| -- | p. 1000-1007 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1111/cge.13225">https://doi.org/10.1111/cge.13225</a> |
| Public note | Available from publisher's website |
No items available.