Genome sequencing identifies major causes of severe intellectual disability. (Record no. 23887157)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01930 a2200589 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516215026.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201408s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1476-4687 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/nature13394 |
| 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 | Gilissen, Christian |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20140819 |
| 245 00 - TITLE STATEMENT | |
| Title | Genome sequencing identifies major causes of severe intellectual disability. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Nature |
| Date of publication, distribution, etc. | Jul 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 344-7 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 | Chromosomes, Human, Pair 4 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, X |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cohort Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Copy Number Variations |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Duplication |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genome, Human |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Guanine Nucleotide Exchange Factors |
| General subdivision | genetics |
| 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 | Polymorphism, Single Nucleotide |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Analysis, DNA |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hehir-Kwa, Jayne Y |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thung, Djie Tjwan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van de Vorst, Maartje |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Bon, Bregje W M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Willemsen, Marjolein H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kwint, Michael |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Janssen, Irene M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hoischen, Alexander |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schenck, Annette |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Leach, Richard |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Klein, Robert |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tearle, Rick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bo, Tan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pfundt, Rolph |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yntema, Helger G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Vries, Bert B A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kleefstra, Tjitske |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brunner, Han G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vissers, Lisenka E L M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Veltman, Joris A |
| 773 0# - HOST ITEM ENTRY | |
| Title | Nature |
| Related parts | vol. 511 |
| -- | no. 7509 |
| -- | p. 344-7 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/nature13394">https://doi.org/10.1038/nature13394</a> |
| Public note | Available from publisher's website |
No items available.