Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. (Record no. 23169534)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02148 a2200661 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516174104.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201406s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1468-6244 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1136/jmedgenet-2013-101644 |
| 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 | Schuurs-Hoeijmakers, Janneke H M |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20140603 |
| 245 00 - TITLE STATEMENT | |
| Title | Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of medical genetics |
| Date of publication, distribution, etc. | Dec 2013 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 802-11 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 | DNA Mutational Analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Family |
| 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 | 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 | Mutation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vulto-van Silfhout, Anneke T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vissers, Lisenka E L M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van de Vondervoort, Ilse I G M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Bon, Bregje W M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Ligt, Joep |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gilissen, Christian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hehir-Kwa, Jayne Y |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Neveling, Kornelia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | del Rosario, Marisol |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hira, Gausiya |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Reitano, Santina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vitello, Aurelio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Failla, Pinella |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Greco, Donatella |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fichera, Marco |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Galesi, Ornella |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kleefstra, Tjitske |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Greally, Marie T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ockeloen, Charlotte W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Willemsen, Marjolein H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bongers, Ernie M H F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Janssen, Irene M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pfundt, Rolph |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Veltman, Joris A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Romano, Corrado |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Willemsen, Michèl A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Bokhoven, Hans |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brunner, Han G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Vries, Bert B A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Brouwer, Arjan P M |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of medical genetics |
| Related parts | vol. 50 |
| -- | no. 12 |
| -- | p. 802-11 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/jmedgenet-2013-101644">https://doi.org/10.1136/jmedgenet-2013-101644</a> |
| Public note | Available from publisher's website |
No items available.