Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. (Record no. 29140179)

MARC details
000 -LEADER
fixed length control field 02399 a2200757 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250518012718.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201905s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1537-6605
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.ajhg.2018.10.026
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 de Brouwer, Arjan P M
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20190514
245 00 - TITLE STATEMENT
Title Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. American journal of human genetics
Date of publication, distribution, etc. 12 2018
300 ## - PHYSICAL DESCRIPTION
Extent 1045-1052 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 Aggression
General subdivision physiology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Animals
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 Drosophila melanogaster
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Dwarfism
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Exons
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 Knockout Techniques
General subdivision methods
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Variation
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Homozygote
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 Language Development Disorders
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 Microcephaly
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pedigree
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Phenotype
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element RNA, Messenger
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element RNA, Transfer
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Abou Jamra, Rami
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Körtel, Nadine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Soyris, Clara
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Polla, Daniel L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Safra, Modi
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zisso, Avia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Powell, Christopher A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rebelo-Guiomar, Pedro
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dinges, Nadja
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Morin, Violeta
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Stock, Michael
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hussain, Mureed
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Shahzad, Mohsin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Riazuddin, Saima
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ahmed, Zubair M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pfundt, Rolph
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schwarz, Franziska
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name de Boer, Lonneke
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Reis, André
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Grozeva, Detilina
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Raymond, F Lucy
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Riazuddin, Sheikh
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Koolen, David A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Minczuk, Michal
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Roignant, Jean-Yves
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name van Bokhoven, Hans
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schwartz, Schraga
773 0# - HOST ITEM ENTRY
Title American journal of human genetics
Related parts vol. 103
-- no. 6
-- p. 1045-1052
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.ajhg.2018.10.026">https://doi.org/10.1016/j.ajhg.2018.10.026</a>
Public note Available from publisher's website

No items available.