Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU. (Record no. 26958894)

MARC details
000 -LEADER
fixed length control field 03077 a2201009 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517142952.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201706s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1432-1203
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1007/s00439-017-1772-0
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 Depienne, Christel
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20170620
245 00 - TITLE STATEMENT
Title Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Human genetics
Date of publication, distribution, etc. 04 2017
300 ## - PHYSICAL DESCRIPTION
Extent 463-479 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosome Deletion
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosomes, Human, Pair 1
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Heterogeneous-Nuclear Ribonucleoproteins
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 Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Neurodevelopmental Disorders
General subdivision genetics
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 Repressor Proteins
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nava, Caroline
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Personal name Keren, Boris
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Personal name Heide, Solveig
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Personal name Rastetter, Agnès
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Personal name Passemard, Sandrine
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Personal name Chantot-Bastaraud, Sandra
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Personal name Moutard, Marie-Laure
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Personal name Agrawal, Pankaj B
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Personal name VanNoy, Grace
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Personal name Koehler, Udo
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Personal name Häckl, Birgit
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Personal name von Stülpnagel, Celina
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Personal name Kluger, Gerhard
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Personal name Møller, Rikke S
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Personal name Pal, Deb
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Personal name Soller, Maria
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Personal name Verbeek, Nienke E
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Personal name van Haelst, Mieke M
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Personal name de Kovel, Carolien
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Personal name Koeleman, Bobby
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Personal name van Haaften, Gijs
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Personal name Attié-Bitach, Tania
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Personal name Boutaud, Lucile
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Personal name Héron, Delphine
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Personal name Mignot, Cyril
773 0# - HOST ITEM ENTRY
Title Human genetics
Related parts vol. 136
-- no. 4
-- p. 463-479
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1007/s00439-017-1772-0">https://doi.org/10.1007/s00439-017-1772-0</a>
Public note Available from publisher's website

No items available.