Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. (Record no. 22143785)

MARC details
000 -LEADER
fixed length control field 02287 a2200745 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516113442.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201212s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1474-547X
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/S0140-6736(12)61480-9
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 Rauch, Anita
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20121203
245 00 - TITLE STATEMENT
Title Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Lancet (London, England)
Date of publication, distribution, etc. Nov 2012
300 ## - PHYSICAL DESCRIPTION
Extent 1674-82 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
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 Exome
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 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 Male
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wieczorek, Dagmar
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Graf, Elisabeth
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wieland, Thomas
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Endele, Sabine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schwarzmayr, Thomas
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Albrecht, Beate
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bartholdi, Deborah
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Beygo, Jasmin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Di Donato, Nataliya
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dufke, Andreas
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cremer, Kirsten
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hempel, Maja
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Horn, Denise
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hoyer, Juliane
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Joset, Pascal
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Röpke, Albrecht
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Moog, Ute
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Riess, Angelika
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Thiel, Christian T
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tzschach, Andreas
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wiesener, Antje
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wohlleber, Eva
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zweier, Christiane
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ekici, Arif B
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zink, Alexander M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rump, Andreas
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Meisinger, Christa
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Grallert, Harald
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sticht, Heinrich
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schenck, Annette
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Engels, Hartmut
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rappold, Gudrun
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schröck, Evelin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wieacker, Peter
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Riess, Olaf
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Meitinger, Thomas
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Reis, André
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Strom, Tim M
773 0# - HOST ITEM ENTRY
Title Lancet (London, England)
Related parts vol. 380
-- no. 9854
-- p. 1674-82
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/S0140-6736(12)61480-9">https://doi.org/10.1016/S0140-6736(12)61480-9</a>
Public note Available from publisher's website

No items available.