De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. (Record no. 27060406)
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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 |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Ebstein, Frédéric |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Khan, Tahir N |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Gambin, Tomasz |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Douglas, Jessica |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Bacino, Carlos A |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Craigen, William J |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Sanders, Stephan J |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Lehmann, Andrea |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Latypova, Xénia |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Khan, Kamal |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Pacault, Mathilde |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Sacharow, Stephanie |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Glaser, Kimberly |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Bieth, Eric |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Perrin-Sabourin, Laurence |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Jacquemont, Marie-Line |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Cho, Megan T |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Roeder, Elizabeth |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Denommé-Pichon, Anne-Sophie |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Monaghan, Kristin G |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Yuan, Bo |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Xia, Fan |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Simon, Sylvain |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Bonneau, Dominique |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Parent, Philippe |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Gilbert-Dussardier, Brigitte |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Odent, Sylvie |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Toutain, Annick |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Pasquier, Laurent |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Barbouth, Deborah |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Shaw, Chad A |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Patel, Ankita |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Smith, Janice L |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Bi, Weimin |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Schmitt, Sébastien |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Deb, Wallid |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Nizon, Mathilde |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Mercier, Sandra |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Vincent, Marie |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Rooryck, Caroline |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Malan, Valérie |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Briceño, Ignacio |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Gómez, Alberto |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Nugent, Kimberly M |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Gibson, James B |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Cogné, Benjamin |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Lupski, James R |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Stessman, Holly A F |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Eichler, Evan E |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Retterer, Kyle |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Yang, Yaping |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Redon, Richard |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Katsanis, Nicholas |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Rosenfeld, Jill A |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Kloetzel, Peter-Michael |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Golzio, Christelle |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Bézieau, Stéphane |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Stankiewicz, Paweł |
700 1# - ADDED ENTRY--PERSONAL NAME | |
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.