Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. (Record no. 22272698)

MARC details
000 -LEADER
fixed length control field 02760 a2200841 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516122041.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201301s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1095-9203
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1126/science.1227764
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 O'Roak, Brian J
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20130104
245 00 - TITLE STATEMENT
Title Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Science (New York, N.Y.)
Date of publication, distribution, etc. Dec 2012
300 ## - PHYSICAL DESCRIPTION
Extent 1619-22 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cephalometry
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 Child Development Disorders, Pervasive
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Child, Preschool
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromatin Assembly and Disassembly
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 Probes
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA-Binding Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Exome
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 Genetic Association Studies
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Predisposition to Disease
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 Megalencephaly
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Microcephaly
General subdivision genetics
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 Nuclear Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element PTEN Phosphohydrolase
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Protein Serine-Threonine Kinases
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Protein-Tyrosine Kinases
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Receptors, Cytoplasmic and Nuclear
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Receptors, N-Methyl-D-Aspartate
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Repressor Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sequence Analysis, DNA
General subdivision methods
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element T-Box Domain Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Transcription Factors
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element beta Catenin
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Dyrk Kinases
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vives, Laura
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fu, Wenqing
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Egertson, Jarrett D
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Stanaway, Ian B
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Phelps, Ian G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Carvill, Gemma
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kumar, Akash
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lee, Choli
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ankenman, Katy
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Munson, Jeff
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hiatt, Joseph B
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Turner, Emily H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Levy, Roie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name O'Day, Diana R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Krumm, Niklas
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Coe, Bradley P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Martin, Beth K
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Borenstein, Elhanan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nickerson, Deborah A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mefford, Heather C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Doherty, Dan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Akey, Joshua M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bernier, Raphael
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Eichler, Evan E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Shendure, Jay
773 0# - HOST ITEM ENTRY
Title Science (New York, N.Y.)
Related parts vol. 338
-- no. 6114
-- p. 1619-22
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1126/science.1227764">https://doi.org/10.1126/science.1227764</a>
Public note Available from publisher's website

No items available.