Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis. (Record no. 27746973)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02264 a2200613 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517183224.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201810s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1530-0366 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/gim.2017.162 |
| 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 | Nambot, Sophie |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20181017 |
| 245 00 - TITLE STATEMENT | |
| Title | Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Genetics in medicine : official journal of the American College of Medical Genetics |
| Date of publication, distribution, etc. | 06 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 645-654 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 | Congenital Abnormalities |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Databases, Genetic |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Testing |
| General subdivision | methods |
| 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 | Intellectual Disability |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Rare Diseases |
| General subdivision | genetics |
| 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 | Sequence Analysis, DNA |
| General subdivision | methods |
| 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 | Thevenon, Julien |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kuentz, Paul |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Duffourd, Yannis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tisserant, Emilie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bruel, Ange-Line |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mosca-Boidron, Anne-Laure |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Masurel-Paulet, Alice |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lehalle, Daphné |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jean-Marçais, Nolwenn |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lefebvre, Mathilde |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vabres, Pierre |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | El Chehadeh-Djebbar, Salima |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Philippe, Christophe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tran Mau-Them, Frederic |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | St-Onge, Judith |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jouan, Thibaud |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chevarin, Martin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Poé, Charlotte |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carmignac, Virginie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vitobello, Antonio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Callier, Patrick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rivière, Jean-Baptiste |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Faivre, Laurence |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thauvin-Robinet, Christel |
| 773 0# - HOST ITEM ENTRY | |
| Title | Genetics in medicine : official journal of the American College of Medical Genetics |
| Related parts | vol. 20 |
| -- | no. 6 |
| -- | p. 645-654 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/gim.2017.162">https://doi.org/10.1038/gim.2017.162</a> |
| Public note | Available from publisher's website |
No items available.