MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression. (Record no. 27041978)
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000 -LEADER | |
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fixed length control field | 01855 a2200541 4500 |
005 - DATE AND TIME OF LATEST TRANSACTION | |
control field | 20250517145517.0 |
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
fixed length control field | 201710s 0 0 eng d |
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
International Standard Serial Number | 1460-2083 |
024 7# - OTHER STANDARD IDENTIFIER | |
Standard number or code | 10.1093/hmg/ddx099 |
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 | Donnio, Lise-Marie |
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
Date of production, publication, distribution, manufacture, or copyright notice | 20171017 |
245 00 - TITLE STATEMENT | |
Title | MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression. |
Medium | [electronic resource] |
260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
Name of publisher, distributor, etc. | Human molecular genetics |
Date of publication, distribution, etc. | 06 2017 |
300 ## - PHYSICAL DESCRIPTION | |
Extent | 2062-2075 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 | Abnormalities, Multiple |
General subdivision | genetics |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Blepharophimosis |
General subdivision | genetics |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Blepharoptosis |
General subdivision | genetics |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Gene Expression Regulation |
General subdivision | genetics |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Genes, Immediate-Early |
General subdivision | genetics |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Genes, X-Linked |
General subdivision | genetics |
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 | Intellectual Disability |
General subdivision | genetics |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Mediator Complex |
General subdivision | genetics |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | X-Linked Intellectual Disability |
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 | Phenotype |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Repressor Proteins |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Bidon, Baptiste |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Hashimoto, Satoru |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | May, Melanie |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Epanchintsev, Alexey |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Ryan, Colm |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Allen, William |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Hackett, Anna |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Gecz, Jozef |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Skinner, Cindy |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Stevenson, Roger E |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | de Brouwer, Arjan P M |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Coutton, Charles |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Francannet, Christine |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Jouk, Pierre-Simon |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Schwartz, Charles E |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Egly, Jean-Marc |
773 0# - HOST ITEM ENTRY | |
Title | Human molecular genetics |
Related parts | vol. 26 |
-- | no. 11 |
-- | p. 2062-2075 |
856 40 - ELECTRONIC LOCATION AND ACCESS | |
Uniform Resource Identifier | <a href="https://doi.org/10.1093/hmg/ddx099">https://doi.org/10.1093/hmg/ddx099</a> |
Public note | Available from publisher's website |
No items available.