Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX. (Record no. 21781010)

MARC details
000 -LEADER
fixed length control field 01528 a2200445 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516092504.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201209s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1552-4833
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1002/ajmg.a.35365
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 Oegema, Renske
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20120924
245 00 - TITLE STATEMENT
Title Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. American journal of medical genetics. Part A
Date of publication, distribution, etc. Jun 2012
300 ## - PHYSICAL DESCRIPTION
Extent 1472-6 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Facies
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Heterozygote
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Homeodomain Proteins
General subdivision genetics
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 Infant
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Karyotype
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 Malformations of Cortical Development
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutagenesis, Insertional
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 Neuroimaging
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Periventricular Nodular Heterotopia
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Transcription Factors
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Maat-Kievit, Anneke
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lequin, Maarten H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schot, Rachel
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nanninga-van den Neste, Veerle M H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Doornbos, Marianne E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name de Wit, Marie C Y
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Halley, Dicky J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mancini, Grazia M S
773 0# - HOST ITEM ENTRY
Title American journal of medical genetics. Part A
Related parts vol. 158A
-- no. 6
-- p. 1472-6
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1002/ajmg.a.35365">https://doi.org/10.1002/ajmg.a.35365</a>
Public note Available from publisher's website

No items available.