De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. (Record no. 27060406)

MARC details
000 -LEADER
fixed length control field 02748 a2200901 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517150112.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field ####s 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.2017.03.003
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 Küry, Sébastien
245 00 - TITLE STATEMENT
Title De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. American journal of human genetics
Date of publication, distribution, etc. 04 2017
300 ## - PHYSICAL DESCRIPTION
Extent 689 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Published Erratum
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Besnard, Thomas
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Personal name Ebstein, Frédéric
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Personal name Khan, Tahir N
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Personal name Gambin, Tomasz
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Personal name Douglas, Jessica
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Personal name Bacino, Carlos A
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Personal name Craigen, William J
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Personal name Sanders, Stephan J
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Personal name Lehmann, Andrea
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Personal name Latypova, Xénia
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Personal name Khan, Kamal
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Personal name Pacault, Mathilde
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Personal name Sacharow, Stephanie
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Personal name Glaser, Kimberly
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Personal name Bieth, Eric
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Personal name Perrin-Sabourin, Laurence
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Personal name Jacquemont, Marie-Line
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Personal name Cho, Megan T
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Personal name Roeder, Elizabeth
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Personal name Denommé-Pichon, Anne-Sophie
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Personal name Monaghan, Kristin G
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Personal name Yuan, Bo
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Personal name Xia, Fan
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Personal name Simon, Sylvain
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Personal name Bonneau, Dominique
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Personal name Parent, Philippe
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Personal name Gilbert-Dussardier, Brigitte
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Personal name Odent, Sylvie
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Personal name Toutain, Annick
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Personal name Barbouth, Deborah
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Personal name Shaw, Chad A
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Personal name Patel, Ankita
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Personal name Smith, Janice L
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Personal name Bi, Weimin
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Personal name Schmitt, Sébastien
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Personal name Deb, Wallid
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Personal name Nizon, Mathilde
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Personal name Mercier, Sandra
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Personal name Vincent, Marie
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Personal name Rooryck, Caroline
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Personal name Malan, Valérie
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Personal name Briceño, Ignacio
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Personal name Gómez, Alberto
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Personal name Nugent, Kimberly M
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Personal name Gibson, James B
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Personal name Cogné, Benjamin
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Personal name Lupski, James R
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Personal name Stessman, Holly A F
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Personal name Eichler, Evan E
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Personal name Retterer, Kyle
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Personal name Yang, Yaping
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Personal name Redon, Richard
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Personal name Katsanis, Nicholas
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Personal name Rosenfeld, Jill A
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Personal name Kloetzel, Peter-Michael
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Personal name Golzio, Christelle
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Personal name Bézieau, Stéphane
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Personal name Stankiewicz, Paweł
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Personal name Isidor, Bertrand
773 0# - HOST ITEM ENTRY
Title American journal of human genetics
Related parts vol. 100
-- no. 4
-- p. 689
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.ajhg.2017.03.003">https://doi.org/10.1016/j.ajhg.2017.03.003</a>
Public note Available from publisher's website

No items available.