Cover Image

Phenotypic spectrum associated with CASK loss-of-function mutations

Show other versions (1)
Saved in:
Bibliographic Details
Main Authors: Moog, Ute (Author) , Kutsche, Kerstin (Author) , Kortüm, Fanny (Author) , Chilian, Bettina (Author) , Bierhals, Tatjana (Author) , Apeshiotis, Neophytos (Author) , Balg, Stefanie (Author) , Chassaing, Nicolas (Author) , Coubes, Christine (Author) , Das, Soma (Author) , Engels, Hartmut (Author) , Esch, Hilde Van (Author) , Grasshoff, Ute (Author) , Heise, Marisol (Author) , Isidor, Bertrand (Author) , Jarvis, Joanna (Author) , Koehler, Udo (Author) , Martin, Thomas (Author) , Oehl-Jaschkowitz, Barbara (Author) , Ortibus, Els (Author) , Pilz, Daniela T. (Author) , Prabhakar, Prab (Author) , Rappold, Gudrun (Author) , Rau, Isabella (Author) , Rettenberger, Günther (Author) , Schlüter, Gregor (Author) , Scott, Richard H. (Author) , Shoukier, Moonef (Author) , Wohlleber, Eva (Author) , Zirn, Birgit (Author) , Dobyns, William B. (Author) , Uyanik, Gökhan (Author)
Format: Article (Journal)
Language:English
Published: 2011
In: Journal of medical genetics
Year: 2011, Volume: 48, Issue: 11, Pages: 741-751
ISSN:0022-2593
Online Access: Get full text
Author Notes:Ute Moog, Kerstin Kutsche, Fanny Kortüm, Bettina Chilian, Tatjana Bierhals, Neophytos Apeshiotis, Stefanie Balg, Nicolas Chassaing, Christine Coubes, Soma Das, Hartmut Engels, Hilde Van Esch, Ute Grasshoff, Marisol Heise, Bertrand Isidor, Joanna Jarvis, Udo Koehler, Thomas Martin, Barbara Oehl-Jaschkowitz, Els Ortibus, Daniela T. Pilz, Prab Prabhakar, Gudrun Rappold, Isabella Rau, Günther Rettenberger, Gregor Schlüter, Richard H. Scott, Moonef Shoukier, Eva Wohlleber, Birgit Zirn, William B. Dobyns, Gökhan Uyanik

MARC

LEADER 00000caa a2200000 c 4500
001 729187012
003 DE-627
005 20250328012646.0
007 tu
008 121105s2011 xx ||||| 00| ||eng c
035 |a (DE-627)729187012 
035 |a (DE-576)9729187010 
035 |a (DE-599)GBV729187012 
035 |a (OCoLC)1389793576 
035 |a (OLC)1881379760 
040 |a DE-627  |b ger  |c DE-627  |e rda 
041 |a eng 
084 |a 33  |2 sdnb 
100 1 |a Moog, Ute  |d 1954-  |e VerfasserIn  |0 (DE-588)1054047170  |0 (DE-627)791007480  |0 (DE-576)409968501  |4 aut 
245 1 0 |a Phenotypic spectrum associated with CASK loss-of-function mutations  |c Ute Moog, Kerstin Kutsche, Fanny Kortüm, Bettina Chilian, Tatjana Bierhals, Neophytos Apeshiotis, Stefanie Balg, Nicolas Chassaing, Christine Coubes, Soma Das, Hartmut Engels, Hilde Van Esch, Ute Grasshoff, Marisol Heise, Bertrand Isidor, Joanna Jarvis, Udo Koehler, Thomas Martin, Barbara Oehl-Jaschkowitz, Els Ortibus, Daniela T. Pilz, Prab Prabhakar, Gudrun Rappold, Isabella Rau, Günther Rettenberger, Gregor Schlüter, Richard H. Scott, Moonef Shoukier, Eva Wohlleber, Birgit Zirn, William B. Dobyns, Gökhan Uyanik 
264 1 |c 2011 
300 |a 11 
336 |a Text  |b txt  |2 rdacontent 
337 |a ohne Hilfsmittel zu benutzen  |b n  |2 rdamedia 
338 |a Band  |b nc  |2 rdacarrier 
500 |a Gesehen am 07.09.2022 
700 1 |a Kutsche, Kerstin  |d 1965-  |e VerfasserIn  |0 (DE-588)1027478948  |0 (DE-627)72918644X  |0 (DE-576)373256566  |4 aut 
700 1 |a Kortüm, Fanny  |e VerfasserIn  |0 (DE-588)1027477925  |0 (DE-627)729185052  |0 (DE-576)373255322  |4 aut 
700 1 |8 1\p  |a Kutsche, Kerstin  |d 1965-  |e VerfasserIn  |0 (DE-588)1027478948  |0 (DE-627)72918644X  |0 (DE-576)373256566  |4 aut 
700 1 |8 2\p  |a Kortüm, Fanny  |e VerfasserIn  |0 (DE-588)1027477925  |0 (DE-627)729185052  |0 (DE-576)373255322  |4 aut 
700 1 |a Chilian, Bettina  |e VerfasserIn  |4 aut 
700 1 |a Bierhals, Tatjana  |e VerfasserIn  |4 aut 
700 1 |a Apeshiotis, Neophytos  |e VerfasserIn  |4 aut 
700 1 |a Balg, Stefanie  |e VerfasserIn  |4 aut 
700 1 |a Chassaing, Nicolas  |e VerfasserIn  |4 aut 
700 1 |a Coubes, Christine  |e VerfasserIn  |4 aut 
700 1 |a Das, Soma  |e VerfasserIn  |4 aut 
700 1 |a Engels, Hartmut  |e VerfasserIn  |4 aut 
700 1 |a Esch, Hilde Van  |e VerfasserIn  |4 aut 
700 1 |a Grasshoff, Ute  |e VerfasserIn  |4 aut 
700 1 |a Heise, Marisol  |e VerfasserIn  |4 aut 
700 1 |a Isidor, Bertrand  |e VerfasserIn  |4 aut 
700 1 |a Jarvis, Joanna  |e VerfasserIn  |4 aut 
700 1 |a Koehler, Udo  |e VerfasserIn  |4 aut 
700 1 |a Martin, Thomas  |e VerfasserIn  |4 aut 
700 1 |a Oehl-Jaschkowitz, Barbara  |e VerfasserIn  |4 aut 
700 1 |a Ortibus, Els  |e VerfasserIn  |4 aut 
700 1 |a Pilz, Daniela T.  |e VerfasserIn  |4 aut 
700 1 |a Prabhakar, Prab  |e VerfasserIn  |4 aut 
700 1 |a Rappold, Gudrun  |d 1954-  |e VerfasserIn  |0 (DE-588)102028319X  |0 (DE-627)691169594  |0 (DE-576)359985947  |4 aut 
700 1 |a Rau, Isabella  |e VerfasserIn  |0 (DE-588)1027472257  |0 (DE-627)729174964  |0 (DE-576)373247583  |4 aut 
700 1 |a Rettenberger, Günther  |e VerfasserIn  |4 aut 
700 1 |a Schlüter, Gregor  |e VerfasserIn  |4 aut 
700 1 |a Scott, Richard H.  |e VerfasserIn  |4 aut 
700 1 |a Shoukier, Moonef  |e VerfasserIn  |4 aut 
700 1 |a Wohlleber, Eva  |e VerfasserIn  |4 aut 
700 1 |a Zirn, Birgit  |e VerfasserIn  |4 aut 
700 1 |a Dobyns, William B.  |e VerfasserIn  |4 aut 
700 1 |a Uyanik, Gökhan  |e VerfasserIn  |0 (DE-588)1027497837  |0 (DE-627)729220249  |0 (DE-576)373274807  |4 aut 
773 0 8 |i Enthalten in  |t Journal of medical genetics  |d London : BMJ Publishing Group, 1964  |g 48(2011), 11 vom: Nov., Seite 741-751  |w (DE-627)129556971  |w (DE-600)220881-7  |w (DE-576)015014762  |x 0022-2593  |7 nnas  |a Phenotypic spectrum associated with CASK loss-of-function mutations 
773 1 8 |g volume:48  |g year:2011  |g number:11  |g month:11  |g pages:741-751  |g extent:11  |a Phenotypic spectrum associated with CASK loss-of-function mutations 
776 0 8 |i Erscheint auch als  |n Online-Ausgabe  |a Moog, Ute, 1954 -   |t Phenotypic spectrum associated with CASK loss-of-function mutations  |d 2011  |w (DE-627)181598967X 
883 |8 1\p  |a cgwrk  |d 20250301  |q DE-101  |u https://d-nb.info/provenance/plan#cgwrk 
883 |8 2\p  |a cgwrk  |d 20250301  |q DE-101  |u https://d-nb.info/provenance/plan#cgwrk 
951 |a AR 
992 |a 20220907 
993 |a Article 
998 |g 102028319X  |a Rappold, Gudrun  |m 102028319X:Rappold, Gudrun  |d 910000  |d 911500  |e 910000PR102028319X  |e 911500PR102028319X  |k 0/910000/  |k 1/910000/911500/  |p 23 
998 |g 1054047170  |a Moog, Ute  |m 1054047170:Moog, Ute  |d 910000  |d 911500  |d 50000  |e 910000PM1054047170  |e 911500PM1054047170  |e 50000PM1054047170  |k 0/910000/  |k 1/910000/911500/  |k 0/50000/  |p 1  |x j 
999 |a KXP-PPN729187012  |e 418535522X 
BIB |a Y 
SER |a journal 
JSO |a {"origin":[{"dateIssuedKey":"2011","dateIssuedDisp":"2011"}],"id":{"eki":["729187012"]},"language":["eng"],"type":{"bibl":"article-journal"},"person":[{"given":"Ute","family":"Moog","display":"Moog, Ute","role":"aut"},{"given":"Kerstin","family":"Kutsche","display":"Kutsche, Kerstin","role":"aut"},{"given":"Fanny","family":"Kortüm","display":"Kortüm, Fanny","role":"aut"},{"role":"aut","given":"Kerstin","display":"Kutsche, Kerstin","family":"Kutsche"},{"given":"Fanny","family":"Kortüm","display":"Kortüm, Fanny","role":"aut"},{"role":"aut","given":"Bettina","display":"Chilian, Bettina","family":"Chilian"},{"given":"Tatjana","display":"Bierhals, Tatjana","family":"Bierhals","role":"aut"},{"role":"aut","given":"Neophytos","family":"Apeshiotis","display":"Apeshiotis, Neophytos"},{"given":"Stefanie","family":"Balg","display":"Balg, Stefanie","role":"aut"},{"display":"Chassaing, Nicolas","family":"Chassaing","given":"Nicolas","role":"aut"},{"role":"aut","display":"Coubes, Christine","family":"Coubes","given":"Christine"},{"role":"aut","given":"Soma","display":"Das, Soma","family":"Das"},{"role":"aut","given":"Hartmut","display":"Engels, Hartmut","family":"Engels"},{"given":"Hilde Van","display":"Esch, Hilde Van","family":"Esch","role":"aut"},{"role":"aut","given":"Ute","family":"Grasshoff","display":"Grasshoff, Ute"},{"role":"aut","family":"Heise","display":"Heise, Marisol","given":"Marisol"},{"role":"aut","given":"Bertrand","display":"Isidor, Bertrand","family":"Isidor"},{"given":"Joanna","family":"Jarvis","display":"Jarvis, Joanna","role":"aut"},{"role":"aut","given":"Udo","family":"Koehler","display":"Koehler, Udo"},{"role":"aut","given":"Thomas","family":"Martin","display":"Martin, Thomas"},{"family":"Oehl-Jaschkowitz","display":"Oehl-Jaschkowitz, Barbara","given":"Barbara","role":"aut"},{"role":"aut","given":"Els","family":"Ortibus","display":"Ortibus, Els"},{"role":"aut","family":"Pilz","display":"Pilz, Daniela T.","given":"Daniela T."},{"given":"Prab","family":"Prabhakar","display":"Prabhakar, Prab","role":"aut"},{"role":"aut","given":"Gudrun","family":"Rappold","display":"Rappold, Gudrun"},{"role":"aut","family":"Rau","display":"Rau, Isabella","given":"Isabella"},{"given":"Günther","family":"Rettenberger","display":"Rettenberger, Günther","role":"aut"},{"role":"aut","given":"Gregor","family":"Schlüter","display":"Schlüter, Gregor"},{"family":"Scott","display":"Scott, Richard H.","given":"Richard H.","role":"aut"},{"given":"Moonef","family":"Shoukier","display":"Shoukier, Moonef","role":"aut"},{"role":"aut","given":"Eva","family":"Wohlleber","display":"Wohlleber, Eva"},{"given":"Birgit","family":"Zirn","display":"Zirn, Birgit","role":"aut"},{"given":"William B.","family":"Dobyns","display":"Dobyns, William B.","role":"aut"},{"role":"aut","display":"Uyanik, Gökhan","family":"Uyanik","given":"Gökhan"}],"physDesc":[{"extent":"11 S."}],"title":[{"title":"Phenotypic spectrum associated with CASK loss-of-function mutations","title_sort":"Phenotypic spectrum associated with CASK loss-of-function mutations"}],"relHost":[{"pubHistory":["1.1964 -"],"note":["Repr.: Folkestone : Dawson"],"recId":"129556971","disp":"Phenotypic spectrum associated with CASK loss-of-function mutationsJournal of medical genetics","part":{"extent":"11","year":"2011","issue":"11","volume":"48","text":"48(2011), 11 vom: Nov., Seite 741-751","pages":"741-751"},"title":[{"title":"Journal of medical genetics","title_sort":"Journal of medical genetics"}],"titleAlt":[{"title":"JMG"}],"id":{"eki":["129556971"],"issn":["0022-2593"],"zdb":["220881-7"]},"type":{"bibl":"periodical"},"language":["eng"],"origin":[{"publisher":"BMJ Publishing Group ; British Medical Assoc.","dateIssuedKey":"1964","dateIssuedDisp":"1964-","publisherPlace":"London ; London"}]}],"name":{"displayForm":["Ute Moog, Kerstin Kutsche, Fanny Kortüm, Bettina Chilian, Tatjana Bierhals, Neophytos Apeshiotis, Stefanie Balg, Nicolas Chassaing, Christine Coubes, Soma Das, Hartmut Engels, Hilde Van Esch, Ute Grasshoff, Marisol Heise, Bertrand Isidor, Joanna Jarvis, Udo Koehler, Thomas Martin, Barbara Oehl-Jaschkowitz, Els Ortibus, Daniela T. Pilz, Prab Prabhakar, Gudrun Rappold, Isabella Rau, Günther Rettenberger, Gregor Schlüter, Richard H. Scott, Moonef Shoukier, Eva Wohlleber, Birgit Zirn, William B. Dobyns, Gökhan Uyanik"]},"note":["Gesehen am 07.09.2022"],"recId":"729187012"} 
SRT |a MOOGUTEKUTPHENOTYPIC2011 

Similar Items