19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference. (Record no. 27833733)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02141 a2200661 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517185920.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201812s 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/s41431-017-0037-7 |
| 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 | Trimouille, Aurélien |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20181211 |
| 245 00 - TITLE STATEMENT | |
| Title | 19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of human genetics : EJHG |
| Date of publication, distribution, etc. | 01 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 85-93 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 | Adolescent |
| 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 | Chromosome Duplication |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 19 |
| 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 | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Infant |
| 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 | NFI Transcription Factors |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Syndrome |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Houcinat, Nada |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vuillaume, Marie-Laure |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fergelot, Patricia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boucher, Cécile |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Toutain, Jérôme |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Caignec, Cédric Le |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vincent, Marie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nizon, Mathilde |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Andrieux, Joris |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vanlerberghe, Clémence |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Delobel, Bruno |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Duban, Bénédicte |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mansour, Sahar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baple, Emma |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McKeown, Colina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Poke, Gemma |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Robertshaw, Kate |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fifield, Eve |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fabretto, Antonella |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pecile, Vanna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gasparini, Paolo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carrozzi, Marco |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lacombe, Didier |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Arveiler, Benoît |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rooryck, Caroline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Moutton, Sébastien |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of human genetics : EJHG |
| Related parts | vol. 26 |
| -- | no. 1 |
| -- | p. 85-93 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/s41431-017-0037-7">https://doi.org/10.1038/s41431-017-0037-7</a> |
| Public note | Available from publisher's website |
No items available.