Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing. (Record no. 21684838)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01810 a2200517 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516085053.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201205s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1537-6605 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ajhg.2012.02.013 |
| 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 | Itsara, Andy |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20120531 |
| 245 00 - TITLE STATEMENT | |
| Title | Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Apr 2012 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 599-613 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Base Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosome Breakpoints |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosome Deletion |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 17 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Comparative Genomic Hybridization |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Copy Number Variations |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Haplotypes |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Homologous Recombination |
| 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 | Molecular Sequence Data |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Segmental Duplications, Genomic |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Analysis, DNA |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Smith-Magenis Syndrome |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vissers, Lisenka E L M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Steinberg, Karyn Meltz |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Meyer, Kevin J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zody, Michael C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Koolen, David A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Ligt, Joep |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cuppen, Edwin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baker, Carl |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lee, Choli |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Graves, Tina A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wilson, Richard K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jenkins, Robert B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Veltman, Joris A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Eichler, Evan E |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 90 |
| -- | no. 4 |
| -- | p. 599-613 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2012.02.013">https://doi.org/10.1016/j.ajhg.2012.02.013</a> |
| Public note | Available from publisher's website |
No items available.