Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. (Record no. 24100058)
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fixed length control field | 03501 a2201177 4500 |
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control field | 20250516230222.0 |
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
fixed length control field | 201505s 0 0 eng d |
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
International Standard Serial Number | 1468-6244 |
024 7# - OTHER STANDARD IDENTIFIER | |
Standard number or code | 10.1136/jmedgenet-2014-102573 |
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 | Ansari, Morad |
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
Date of production, publication, distribution, manufacture, or copyright notice | 20150518 |
245 00 - TITLE STATEMENT | |
Title | Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. |
Medium | [electronic resource] |
260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
Name of publisher, distributor, etc. | Journal of medical genetics |
Date of publication, distribution, etc. | Oct 2014 |
300 ## - PHYSICAL DESCRIPTION | |
Extent | 659-68 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 | De Lange Syndrome |
General subdivision | genetics |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Face |
General subdivision | pathology |
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 Heterogeneity |
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 | Mosaicism |
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 | Phenotype |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Poke, Gemma |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Ferry, Quentin |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Williamson, Kathleen |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Aldridge, Roland |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Meynert, Alison M |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Bengani, Hemant |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Chan, Cheng Yee |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Kayserili, Hülya |
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Personal name | Avci, Sahin |
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Personal name | Hennekam, Raoul C M |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Lampe, Anne K |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Redeker, Egbert |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Homfray, Tessa |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Ross, Alison |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Falkenberg Smeland, Marie |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Mansour, Sahar |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Parker, Michael J |
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Personal name | Cook, Jacqueline A |
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Personal name | Splitt, Miranda |
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Personal name | Fisher, Richard B |
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Personal name | Fryer, Alan |
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Personal name | Magee, Alex C |
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Personal name | Wilkie, Andrew |
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Personal name | Barnicoat, Angela |
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Personal name | Brady, Angela F |
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Personal name | Cooper, Nicola S |
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Personal name | Mercer, Catherine |
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Personal name | Deshpande, Charu |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Bennett, Christopher P |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Pilz, Daniela T |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Ruddy, Deborah |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Cilliers, Deirdre |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Johnson, Diana S |
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Personal name | Josifova, Dragana |
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Personal name | Rosser, Elisabeth |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Thompson, Elizabeth M |
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Personal name | Wakeling, Emma |
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Personal name | Kinning, Esther |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Stewart, Fiona |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Flinter, Frances |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Girisha, Katta M |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Cox, Helen |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Firth, Helen V |
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Personal name | Kingston, Helen |
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Personal name | Wee, Jamie S |
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Personal name | Hurst, Jane A |
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Personal name | Clayton-Smith, Jill |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Tolmie, John |
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Personal name | Vogt, Julie |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Tatton-Brown, Katrina |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Chandler, Kate |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Prescott, Katrina |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Wilson, Louise |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Behnam, Mahdiyeh |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | McEntagart, Meriel |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Davidson, Rosemarie |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Lynch, Sally-Ann |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Sisodiya, Sanjay |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Mehta, Sarju G |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | McKee, Shane A |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Mohammed, Shehla |
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Personal name | Holden, Simon |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Park, Soo-Mi |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Holder, Susan E |
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Personal name | Harrison, Victoria |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | McConnell, Vivienne |
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Personal name | Lam, Wayne K |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Green, Andrew J |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Donnai, Dian |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Bitner-Glindzicz, Maria |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Donnelly, Deirdre E |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Nellåker, Christoffer |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Taylor, Martin S |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | FitzPatrick, David R |
773 0# - HOST ITEM ENTRY | |
Title | Journal of medical genetics |
Related parts | vol. 51 |
-- | no. 10 |
-- | p. 659-68 |
856 40 - ELECTRONIC LOCATION AND ACCESS | |
Uniform Resource Identifier | <a href="https://doi.org/10.1136/jmedgenet-2014-102573">https://doi.org/10.1136/jmedgenet-2014-102573</a> |
Public note | Available from publisher's website |
No items available.