From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability. (Record no. 30281195)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02396 a2200733 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518070002.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202004s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1756-994X |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1186/s13073-019-0675-1 |
| 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 | Lindstrand, Anna |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20200408 |
| 245 00 - TITLE STATEMENT | |
| Title | From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Genome medicine |
| Date of publication, distribution, etc. | 11 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 68 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 | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosome Aberrations |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cytogenetic Analysis |
| 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 | Diagnostic Tests, Routine |
| 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 Markers |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genome, Human |
| 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 | diagnosis |
| 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 | Pilot Projects |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymorphism, Single Nucleotide |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Prospective Studies |
| 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 | Whole Genome Sequencing |
| General subdivision | methods |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Eisfeldt, Jesper |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pettersson, Maria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carvalho, Claudia M B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kvarnung, Malin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Grigelioniene, Giedre |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Anderlid, Britt-Marie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bjerin, Olof |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gustavsson, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hammarsjö, Anna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Georgii-Hemming, Patrik |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Iwarsson, Erik |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Johansson-Soller, Maria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lagerstedt-Robinson, Kristina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lieden, Agne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Magnusson, Måns |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martin, Marcel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Malmgren, Helena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nordenskjöld, Magnus |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Norling, Ameli |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sahlin, Ellika |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stranneheim, Henrik |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tham, Emma |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wincent, Josephine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ygberg, Sofia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wedell, Anna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wirta, Valtteri |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nordgren, Ann |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lundin, Johanna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nilsson, Daniel |
| 773 0# - HOST ITEM ENTRY | |
| Title | Genome medicine |
| Related parts | vol. 11 |
| -- | no. 1 |
| -- | p. 68 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1186/s13073-019-0675-1">https://doi.org/10.1186/s13073-019-0675-1</a> |
| Public note | Available from publisher's website |
No items available.