Autosomal recessive primary microcephaly due to ASPM mutations: An update. (Record no. 27891687)

MARC details
000 -LEADER
fixed length control field 02747 a2200925 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517191734.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201903s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1098-1004
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1002/humu.23381
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 Létard, Pascaline
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20190328
245 00 - TITLE STATEMENT
Title Autosomal recessive primary microcephaly due to ASPM mutations: An update.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Human mutation
Date of publication, distribution, etc. 03 2018
300 ## - PHYSICAL DESCRIPTION
Extent 319-332 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 Child, Preschool
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cognition
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 Family
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 Geography
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 Magnetic Resonance Imaging
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 epidemiology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Nerve Tissue Proteins
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Drunat, Séverine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vial, Yoann
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Duerinckx, Sarah
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ernault, Anais
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Amram, Daniel
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Personal name Arpin, Stéphanie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bertoli, Marta
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Busa, Tiffany
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ceulemans, Berten
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Desir, Julie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Doco-Fenzy, Martine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Elalaoui, Siham Chafai
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Devriendt, Koenraad
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Faivre, Laurence
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Francannet, Christine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Geneviève, David
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gérard, Marion
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Personal name Gitiaux, Cyril
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Personal name Julia, Sophie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lebon, Sébastien
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lubala, Toni
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mathieu-Dramard, Michèle
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Maurey, Hélène
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Metreau, Julia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nasserereddine, Sanaa
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Personal name Nizon, Mathilde
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pierquin, Geneviève
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Personal name Pouvreau, Nathalie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rivier-Ringenbach, Clothilde
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rossi, Massimiliano
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schaefer, Elise
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sefiani, Abdelaziz
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Personal name Sigaudy, Sabine
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Personal name Sznajer, Yves
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Personal name Tunca, Yusuf
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Personal name Guilmin Crepon, Sophie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Alberti, Corinne
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Elmaleh-Bergès, Monique
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Personal name Benzacken, Brigitte
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Personal name Wollnick, Bernd
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Woods, C Geoffrey
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rauch, Anita
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Abramowicz, Marc
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name El Ghouzzi, Vincent
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gressens, Pierre
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Personal name Verloes, Alain
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Passemard, Sandrine
773 0# - HOST ITEM ENTRY
Title Human mutation
Related parts vol. 39
-- no. 3
-- p. 319-332
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1002/humu.23381">https://doi.org/10.1002/humu.23381</a>
Public note Available from publisher's website

No items available.