Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. (Record no. 19757162)

MARC details
000 -LEADER
fixed length control field 02731 a2200889 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515221221.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201006s 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.2010.03.018
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 Heinzen, Erin L
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20100621
245 00 - TITLE STATEMENT
Title Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. American journal of human genetics
Date of publication, distribution, etc. May 2010
300 ## - PHYSICAL DESCRIPTION
Extent 707-18 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 Chromosomes, Human, Pair 16
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Disease Susceptibility
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Epilepsy
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 Nucleic Acid Hybridization
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sequence Deletion
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Syndrome
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Radtke, Rodney A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Urban, Thomas J
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Personal name Cavalleri, Gianpiero L
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Personal name Depondt, Chantal
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Personal name Need, Anna C
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Personal name Walley, Nicole M
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Personal name Nicoletti, Paola
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Personal name Ge, Dongliang
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Personal name Catarino, Claudia B
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Personal name Duncan, John S
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Personal name Kasperaviciūte, Dalia
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Personal name Tate, Sarah K
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Personal name Caboclo, Luis O
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Personal name Sander, Josemir W
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Personal name Clayton, Lisa
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Personal name Linney, Kristen N
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Personal name Shianna, Kevin V
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Personal name Gumbs, Curtis E
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Personal name Smith, Jason
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Personal name Cronin, Kenneth D
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Personal name Maia, Jessica M
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Personal name Doherty, Colin P
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Personal name Pandolfo, Massimo
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Personal name Leppert, David
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Personal name Middleton, Lefkos T
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Personal name Gibson, Rachel A
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Personal name Johnson, Michael R
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Personal name Matthews, Paul M
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Personal name Hosford, David
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Personal name Kälviäinen, Reetta
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Personal name Eriksson, Kai
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Personal name Kantanen, Anne-Mari
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Personal name Dorn, Thomas
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Personal name Hansen, Jörg
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Personal name Krämer, Günter
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Personal name Steinhoff, Bernhard J
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Personal name Wieser, Heinz-Gregor
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Personal name Zumsteg, Dominik
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Personal name Ortega, Marcos
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Personal name Wood, Nicholas W
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Personal name Huxley-Jones, Julie
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Personal name Mikati, Mohamad
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Personal name Gallentine, William B
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Personal name Husain, Aatif M
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Personal name Buckley, Patrick G
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Personal name Stallings, Ray L
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Personal name Podgoreanu, Mihai V
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Personal name Delanty, Norman
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Personal name Sisodiya, Sanjay M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Goldstein, David B
773 0# - HOST ITEM ENTRY
Title American journal of human genetics
Related parts vol. 86
-- no. 5
-- p. 707-18
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.ajhg.2010.03.018">https://doi.org/10.1016/j.ajhg.2010.03.018</a>
Public note Available from publisher's website

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