De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. (Record no. 29922523)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02543 a2200781 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518051631.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202003s 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.2019.06.014 |
| 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 | Kanca, Oguz |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20200316 |
| 245 00 - TITLE STATEMENT | |
| Title | De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | 08 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 413-424 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: 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 | Body Dysmorphic Disorders |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cerebellum |
| General subdivision | abnormalities |
| 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 | Coloboma |
| General subdivision | genetics |
| 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 | Drosophila melanogaster |
| General subdivision | genetics |
| 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 | 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 | Microfilament Proteins |
| General subdivision | genetics |
| 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 | Nervous System Malformations |
| General subdivision | genetics |
| 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 | Sequence Homology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | WD40 Repeats |
| 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 | Andrews, Jonathan C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lee, Pei-Tseng |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Patel, Chirag |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Braddock, Stephen R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Slavotinek, Anne M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cohen, Julie S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gubbels, Cynthia S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Aldinger, Kimberly A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Williams, Judy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Indaram, Maanasa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fatemi, Ali |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yu, Timothy W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Agrawal, Pankaj B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vezina, Gilbert |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Simons, Cas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Crawford, Joanna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lau, C Christopher |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chung, Wendy K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Markello, Thomas C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dobyns, William B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Adams, David R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gahl, William A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wangler, Michael F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yamamoto, Shinya |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bellen, Hugo J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Malicdan, May Christine V |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 105 |
| -- | no. 2 |
| -- | p. 413-424 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2019.06.014">https://doi.org/10.1016/j.ajhg.2019.06.014</a> |
| Public note | Available from publisher's website |
No items available.