De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms. (Record no. 27899961)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01686 a2200529 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517192003.0 |
| 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.13198 |
| 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 | Powis, Z |
| 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 KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms. |
| 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 | 1030-1038 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 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 | Autism Spectrum 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 | Developmental Disabilities |
| 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 Predisposition to Disease |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Haploinsufficiency |
| 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 | Kruppel-Like Transcription Factors |
| 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 | Exome Sequencing |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Petrik, I |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cohen, J S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Escolar, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Burton, J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Ravenswaaij-Arts, C M A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sival, D A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stegmann, A P A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kleefstra, T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pfundt, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chikarmane, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Begtrup, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huether, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tang, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shinde, D N |
| 773 0# - HOST ITEM ENTRY | |
| Title | Clinical genetics |
| Related parts | vol. 93 |
| -- | no. 5 |
| -- | p. 1030-1038 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1111/cge.13198">https://doi.org/10.1111/cge.13198</a> |
| Public note | Available from publisher's website |
No items available.