Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies. (Record no. 24878070)

MARC details
000 -LEADER
fixed length control field 02663 a2200865 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517031828.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201604s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1553-7404
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1371/journal.pgen.1005226
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 Lal, Dennis
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20160427
245 00 - TITLE STATEMENT
Title Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. PLoS genetics
Date of publication, distribution, etc. May 2015
300 ## - PHYSICAL DESCRIPTION
Extent e1005226 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 Adolescent
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adult
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Case-Control Studies
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 Cohort Studies
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 Epilepsy, Generalized
General subdivision genetics
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 Gene Rearrangement
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 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 Male
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Neurodevelopmental Disorders
General subdivision genetics
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 Protein Interaction Domains and Motifs
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sequence Deletion
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Young Adult
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ruppert, Ann-Kathrin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Trucks, Holger
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schulz, Herbert
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name de Kovel, Carolien G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kasteleijn-Nolst Trenité, Dorothée
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sonsma, Anja C M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Koeleman, Bobby P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lindhout, Dick
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Weber, Yvonne G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lerche, Holger
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kapser, Claudia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schankin, Christoph J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kunz, Wolfram S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Surges, Rainer
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Elger, Christian E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gaus, Verena
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schmitz, Bettina
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Helbig, Ingo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Muhle, Hiltrud
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Stephani, Ulrich
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Klein, Karl M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rosenow, Felix
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Neubauer, Bernd A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Reinthaler, Eva M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zimprich, Fritz
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Feucht, Martha
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Møller, Rikke S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hjalgrim, Helle
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name De Jonghe, Peter
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Suls, Arvid
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lieb, Wolfgang
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Personal name Franke, Andre
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Strauch, Konstantin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gieger, Christian
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schurmann, Claudia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schminke, Ulf
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nürnberg, Peter
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sander, Thomas
773 0# - HOST ITEM ENTRY
Title PLoS genetics
Related parts vol. 11
-- no. 5
-- p. e1005226
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1371/journal.pgen.1005226">https://doi.org/10.1371/journal.pgen.1005226</a>
Public note Available from publisher's website

No items available.