Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. (Record no. 24100058)

MARC details
000 -LEADER
fixed length control field 03501 a2201177 4500
005 - DATE AND TIME OF LATEST TRANSACTION
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
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Avci, Sahin
700 1# - ADDED ENTRY--PERSONAL NAME
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
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cook, Jacqueline A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Splitt, Miranda
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fisher, Richard B
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fryer, Alan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Magee, Alex C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wilkie, Andrew
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Barnicoat, Angela
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Brady, Angela F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cooper, Nicola S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mercer, Catherine
700 1# - ADDED ENTRY--PERSONAL NAME
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
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Josifova, Dragana
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rosser, Elisabeth
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Thompson, Elizabeth M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wakeling, Emma
700 1# - ADDED ENTRY--PERSONAL NAME
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
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kingston, Helen
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wee, Jamie S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hurst, Jane A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Clayton-Smith, Jill
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tolmie, John
700 1# - ADDED ENTRY--PERSONAL NAME
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
700 1# - ADDED ENTRY--PERSONAL NAME
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
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Harrison, Victoria
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name McConnell, Vivienne
700 1# - ADDED ENTRY--PERSONAL NAME
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.