Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing. (Record no. 26858243)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02009 a2200709 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517135851.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201804s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1399-0004 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1111/cge.12987 |
| 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 | Balci, T B |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20180430 |
| 245 00 - TITLE STATEMENT | |
| Title | Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Clinical genetics |
| Date of publication, distribution, etc. | Sep 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 281-289 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Meta-Analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Canada |
| General subdivision | epidemiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Consanguinity |
| 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 | Genetic Association Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Diseases, Inborn |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Predisposition to Disease |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Testing |
| 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 | 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 | Retrospective Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Siblings |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome Sequencing |
| General subdivision | methods |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hartley, T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Xi, Y |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dyment, D A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Beaulieu, C L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bernier, F P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dupuis, L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Horvath, G A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mendoza-Londono, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Prasad, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Richer, J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yang, X-R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Armour, C M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bareke, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fernandez, B A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McMillan, H J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lamont, R E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Majewski, J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Parboosingh, J S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Prasad, A N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rupar, C A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schwartzentruber, J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smith, A C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tétreault, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Innes, A M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boycott, K M |
| 773 0# - HOST ITEM ENTRY | |
| Title | Clinical genetics |
| Related parts | vol. 92 |
| -- | no. 3 |
| -- | p. 281-289 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1111/cge.12987">https://doi.org/10.1111/cge.12987</a> |
| Public note | Available from publisher's website |
No items available.