De novo mutations in moderate or severe intellectual disability. (Record no. 24317059)

MARC details
000 -LEADER
fixed length control field 01632 a2200505 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517001441.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201506s 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.1004772
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 Hamdan, Fadi F
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20150630
245 00 - TITLE STATEMENT
Title De novo mutations in moderate or severe intellectual disability.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. PLoS genetics
Date of publication, distribution, etc. Oct 2014
300 ## - PHYSICAL DESCRIPTION
Extent e1004772 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 Codon, Nonsense
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Epilepsy
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Exome
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Frameshift Mutation
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 Mutation, Missense
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Point Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element RNA Splicing
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sequence Deletion
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Srour, Myriam
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Capo-Chichi, Jose-Mario
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Daoud, Hussein
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nassif, Christina
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Patry, Lysanne
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Massicotte, Christine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ambalavanan, Amirthagowri
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Spiegelman, Dan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Diallo, Ousmane
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Henrion, Edouard
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dionne-Laporte, Alexandre
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fougerat, Anne
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pshezhetsky, Alexey V
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Venkateswaran, Sunita
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rouleau, Guy A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Michaud, Jacques L
773 0# - HOST ITEM ENTRY
Title PLoS genetics
Related parts vol. 10
-- no. 10
-- p. e1004772
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1371/journal.pgen.1004772">https://doi.org/10.1371/journal.pgen.1004772</a>
Public note Available from publisher's website

No items available.