De novo and biallelic DEAF1 variants cause a phenotypic spectrum. (Record no. 29528303)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 02839 a2200865 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518031916.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202002s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1530-0366 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/s41436-019-0473-6 |
| 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 | Nabais Sá, Maria J |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20200204 |
| 245 00 - TITLE STATEMENT | |
| Title | De novo and biallelic DEAF1 variants cause a phenotypic spectrum. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Genetics in medicine : official journal of the American College of Medical Genetics |
| Date of publication, distribution, etc. | 09 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 2059-2069 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 | 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 | Alleles |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Autistic Disorder |
| 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 | DNA-Binding Proteins |
| 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 | 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 | 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 | Language Development Disorders |
| 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 | Microcephaly |
| General subdivision | genetics |
| 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 | Transcription Factors |
| 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 | Jensik, Philip J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McGee, Stacey R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Parker, Michael J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lahiri, Nayana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McNeil, Evan P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kroes, Hester Y |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hagerman, Randi J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Harrison, Rachel E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Montgomery, Tara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Splitt, Miranda |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Palmer, Elizabeth E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sachdev, Rani K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mefford, Heather C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scott, Abbey A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martinez-Agosto, Julian A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lorenz, Rüdiger |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Orenstein, Naama |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Berg, Jonathan N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Amiel, Jeanne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Heron, Delphine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Keren, Boris |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cobben, Jan-Maarten |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Menke, Leonie A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marco, Elysa J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Graham, John M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pierson, Tyler Mark |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Karimiani, Ehsan Ghayoor |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Maroofian, Reza |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Manzini, M Chiara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cauley, Edmund S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Colombo, Roberto |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Odent, Sylvie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dubourg, Christele |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Phornphutkul, Chanika |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Brouwer, Arjan P M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Vries, Bert B A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vulto-vanSilfhout, Anneke T |
| 773 0# - HOST ITEM ENTRY | |
| Title | Genetics in medicine : official journal of the American College of Medical Genetics |
| Related parts | vol. 21 |
| -- | no. 9 |
| -- | p. 2059-2069 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/s41436-019-0473-6">https://doi.org/10.1038/s41436-019-0473-6</a> |
| Public note | Available from publisher's website |
No items available.