Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis. (Record no. 28327010)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02108 a2200661 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517213000.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201902s 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/s41431-018-0096-4 |
| 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 | Mary, Laura |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20190221 |
| 245 00 - TITLE STATEMENT | |
| Title | Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of human genetics : EJHG |
| Date of publication, distribution, etc. | 07 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 996-1006 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 | 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 | 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 | Facies |
| 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 | High-Throughput Nucleotide Sequencing |
| 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 | Hyperventilation |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Intellectual Disability |
| General subdivision | diagnosis |
| 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 |
| 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 | Transcription Factor 4 |
| 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 | Piton, Amélie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schaefer, Elise |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mattioli, Francesca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nourisson, Elsa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Feger, Claire |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Redin, Claire |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Barth, Magali |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | El Chehadeh, Salima |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Colin, Estelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Coubes, Christine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Faivre, Laurence |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Flori, Elisabeth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Geneviève, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Capri, Yline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Perrin, Laurence |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fabre-Teste, Jennifer |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Timbolschi, Dana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Verloes, Alain |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Olaso, Robert |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boland, Anne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Deleuze, Jean-François |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mandel, Jean-Louis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gerard, Bénédicte |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Giurgea, Irina |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of human genetics : EJHG |
| Related parts | vol. 26 |
| -- | no. 7 |
| -- | p. 996-1006 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/s41431-018-0096-4">https://doi.org/10.1038/s41431-018-0096-4</a> |
| Public note | Available from publisher's website |
No items available.