Next-generation genetic testing for retinitis pigmentosa. (Record no. 21545263)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01913 a2200625 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516080142.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201209s 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.22045 |
| 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 | Neveling, Kornelia |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20120906 |
| 245 00 - TITLE STATEMENT | |
| Title | Next-generation genetic testing for retinitis pigmentosa. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | Jun 2012 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 963-72 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 | 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 Variation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | High-Throughput Nucleotide Sequencing |
| General subdivision | methods |
| 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 | 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 | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Quality Control |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Reproducibility of Results |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Retinitis Pigmentosa |
| General subdivision | diagnosis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Collin, Rob W J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gilissen, Christian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Huet, Ramon A C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Visser, Linda |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kwint, Michael P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gijsen, Sabine J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zonneveld, Marijke N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wieskamp, Nienke |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Ligt, Joep |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Siemiatkowska, Anna M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hoefsloot, Lies H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Buckley, Michael F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kellner, Ulrich |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Branham, Kari E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | den Hollander, Anneke I |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hoischen, Alexander |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hoyng, Carel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Klevering, B Jeroen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van den Born, L Ingeborgh |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Veltman, Joris A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cremers, Frans P M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scheffer, Hans |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 33 |
| -- | no. 6 |
| -- | p. 963-72 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.22045">https://doi.org/10.1002/humu.22045</a> |
| Public note | Available from publisher's website |
No items available.