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The ANK Protein : pathologies, genetics and intracellular function |
Authors: Kühnisch, Jirko | Name of University: Freie Universität | Place of University: Berlin | Date of Approval (YYYY-MM-DD): 2011 | Document Type: PhD-Thesis | ID: 596148.0 |
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Expanded mutational spectrum in Cohen Syndrome, tissue expression, and transcript variants of COH1 |
Authors: Seifert, Wenke; Holder-Espinasse, Muriel; Kühnisch, Jirko; Kahrizi, Kimia; Tzschach, Andreas; Garshasbi, Masoud; Najmabadi, Hossein; Kuss, Andreas Walter; Kress, Wolfram; Laureys, Geneviève; Loeys, Bart; Brilstra, Eva; Mancini, Grazia M.S.; Dollfus, Hélène; Dahan, Karin; Apse, Kira; Hennies, Hans Christian; Horn, Denise | Date of Publication (YYYY-MM-DD): 2008-11-12 | Title of Journal: Human Mutation | Volume: 30 | Issue / Number: 2 | Start Page: E404 | End Page: E420 | Document Type: Article | ID: 411209.1 |
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Multiple roles for neurofibromin in skeletal development and growth. |
Authors: Kolanczyk, Mateusz; Kossler, Nadine; Kühnisch, Jirko; Lavitas, Liron; Stricker, Sigmar; Wilkening, Ulrich; Manjubala, Inderchand; Fratzl, Peter; Spörle, Ralf; Herrmann, Bernhard G.; Parada, Luis F.; Kornak, Uwe; Mundlos, Stefan | Date of Publication (YYYY-MM-DD): 2007-02-22 | Title of Journal: Human Molecular Genetics | Volume: 16 | Issue / Number: 8 | Start Page: 232 | End Page: 240 | Document Type: Article | ID: 334867.0 |
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