Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. (Record no. 28621705)
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|---|---|
| fixed length control field | 02372 a2200769 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517225552.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201907s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1471-0064 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/s41576-018-0031-0 |
| 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 | Kline, Antonie D |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20190716 |
| 245 00 - TITLE STATEMENT | |
| Title | Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Nature reviews. Genetics |
| Date of publication, distribution, etc. | 10 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 649-666 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Consensus |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | De Lange Syndrome |
| General subdivision | diagnosis |
| 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 | High-Throughput Nucleotide Sequencing |
| 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 | Mutation |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Moss, Joanna F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Selicorni, Angelo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bisgaard, Anne-Marie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Deardorff, Matthew A |
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| Personal name | Gillett, Peter M |
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| Personal name | Ishman, Stacey L |
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| Personal name | Levin, Alex V |
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| Personal name | FitzPatrick, David |
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| 700 1# - ADDED ENTRY--PERSONAL NAME | |
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| Personal name | Koekkoek, Gerritjan |
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| Personal name | Levis, Mary |
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| Personal name | Mariani, Milena |
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| Personal name | McCleery, Joseph P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Menke, Leonie A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Metrena, Amy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | O'Connor, Julia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oliver, Chris |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pie, Juan |
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| Personal name | Piening, Sigrid |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Potter, Carol J |
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| Personal name | Quaglio, Ana L |
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| Personal name | Redeker, Egbert |
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| Personal name | Richman, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rigamonti, Claudia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shi, Angell |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tümer, Zeynep |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Van Balkom, Ingrid D C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hennekam, Raoul C |
| 773 0# - HOST ITEM ENTRY | |
| Title | Nature reviews. Genetics |
| Related parts | vol. 19 |
| -- | no. 10 |
| -- | p. 649-666 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/s41576-018-0031-0">https://doi.org/10.1038/s41576-018-0031-0</a> |
| Public note | Available from publisher's website |
No items available.