Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. (Record no. 25242062)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01888 a2200601 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517052038.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201608s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1098-1004 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/humu.22901 |
| 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 | Grozeva, Detelina |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20160819 |
| 245 00 - TITLE STATEMENT | |
| Title | Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | Dec 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1197-204 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 | Alleles |
| 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 | Computational Biology |
| General subdivision | methods |
| 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 Association Studies |
| 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 | Inheritance Patterns |
| 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 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymorphism, Single Nucleotide |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carss, Keren |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Spasic-Boskovic, Olivera |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tejada, Maria-Isabel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gecz, Jozef |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shaw, Marie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Corbett, Mark |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Haan, Eric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thompson, Elizabeth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Friend, Kathryn |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hussain, Zaamin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hackett, Anna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Field, Michael |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Renieri, Alessandra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stevenson, Roger |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schwartz, Charles |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Floyd, James A B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bentham, Jamie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cosgrove, Catherine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Keavney, Bernard |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bhattacharya, Shoumo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hurles, Matthew |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Raymond, F Lucy |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 36 |
| -- | no. 12 |
| -- | p. 1197-204 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.22901">https://doi.org/10.1002/humu.22901</a> |
| Public note | Available from publisher's website |
No items available.