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Phenotypic spectrum associated with CASK loss-of-function mutations by 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) ,
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Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy by Gohlke, Bernd (Author) , Haug, Karsten Georg (Author) , Fukami, Maki (Author) , Friedl, Waltraut (Author) , Noeker, Meinolf (Author) , Rappold, Gudrun (Author) , Haverkamp, Fritz (Author) ,
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Klinikum der Universität Heidelberg
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