20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition. (Record no. 23211013)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02184 a2200625 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516175553.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201502s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1476-5438 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ejhg.2013.243 |
| 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 | Piton, Amélie |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20150206 |
| 245 00 - TITLE STATEMENT | |
| Title | 20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of human genetics : EJHG |
| Date of publication, distribution, etc. | Jun 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 776-83 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| 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 | Attention Deficit and Disruptive Behavior Disorders |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Base Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child Development Disorders, Pervasive |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Family Health |
| 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 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | High-Throughput Nucleotide Sequencing |
| General subdivision | methods |
| 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 | Models, Molecular |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Monoamine Oxidase |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Structure, Tertiary |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Poquet, Hélène |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Redin, Claire |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Masurel, Alice |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lauer, Julia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Muller, Jean |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thevenon, Julien |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Herenger, Yvan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chancenotte, Sophie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bonnet, Marlène |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pinoit, Jean-Michel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huet, Frédéric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thauvin-Robinet, Christel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jaeger, Anne-Sophie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Le Gras, Stéphanie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jost, Bernard |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gérard, Bénédicte |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Peoc'h, Katell |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Launay, Jean-Marie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Faivre, Laurence |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mandel, Jean-Louis |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of human genetics : EJHG |
| Related parts | vol. 22 |
| -- | no. 6 |
| -- | p. 776-83 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ejhg.2013.243">https://doi.org/10.1038/ejhg.2013.243</a> |
| Public note | Available from publisher's website |
No items available.