Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome von Klopocki, Eva, Schulze, Harald, Strauß, Gabriele, Ott, Claus-Eric, Hall, Judith, Trotier, Fabienne, Fleischhauer, Silke, Greenhalgh, Lynn, Newbury-Ecob, Ruth A., Neumann, Luitgard M., Habenicht, Rolf, König, Rainer, Seemanova, Eva, Megarbane, André, Ropers, Hans-Hilger, Ullmann, Reinhard, Horn, Denise, Mundlos, Stefan

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The microtubule modulator RanBP10 plays a critical role in regulation of platelet discoid shape and degranulation von Kunert, Stefan, Meyer, Imke, Fleischhauer, Silke, Wannack, Martin, Fiedler, Janine, Shivdasani, Ramesh A., Schulze, Harald

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The beta1-Tubulin Binding Protein RanBP10 Plays a Critical Role for Platelet Discoid Shape and Hemostasis von Schulze, Harald, Fleischhauer, Silke, Meyer, Imke, Wannack, Martin, Kunert, Stefan

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The Abrogated Thrombopoietin (TPO) Signal Transduction In Pediatric Patients Suffering From Thrombocytopenia-Absent Radii Syndrome Is Restored In Adult Patients, Suggesting An Addi... von Fiedler, Janine, Strauss, Gabriele, Wannack, Martin, Fleischhauer, Silke, Seidel, Kerstin, Klopocki, Eva, Mundlos, Stefan, Schmugge, Markus, Schulze, Harald

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Verfahren zur Herstellung monoklonaler anti-D-Antikoerper und eines darauf basierenden Testpraeparates von TANZMANN, HEINZ, GRUNOW, ROLANDSC. MED, MARX, UWE-MED, VON BAEHR, RUEDIGER, SC. MED, FLEISCHHAUER, SILKE, STERNBERGER, JOACHIM-MED

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Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing von Neidhardt, John, Glaus, Esther, Lorenz, Birgit, Netzer, Christian, Li, Yün, Schambeck, Maria, Wittmer, Mariana, Feil, Silke, Kirschner-Schwabe, Renate, Rosenberg, Thomas, Cremers, Frans P M, Bergen, Arthur A B, Barthelmes, Daniel, Baraki, Husnia, Schmid, Fabian, Tanner, Gaby, Fleischhauer, Johannes, Orth, Ulrike, Becker, Christian, Wegscheider, Erika, Nürnberg, Gudrun, Nürnberg, Peter, Bolz, Hanno Jörn, Gal, Andreas, Berger, Wolfgang

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Characterization of a family with X-linked retinitis pigmentosa and variable expressivity in mutation carriers von Neidhardt, John, Glaus, Esther, Lorenz, Birgit, Netzer, Christian, Yün Li, Schambeck, Maria, Wittmer, Mariana, Feil, Silke, Kirschner-Schwabe, Renate, Rosenberg, Thomas, Cremers, Frans P.M., Bergen, Arthur A.B., Barthelmes, Daniel, Husnia Baraki, Schmid, Fabian, Tanner, Gaby, Fleischhauer, Johannes, Orth, Ulrike, Becker, Christian, Wegscheider, Erika, Nürnberg, Gudrun, Nürnberg, Peter, Bolz, Hanno Jörn, Gal, Andreas, Berger, Wolfgang

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Characterization of the deletion breakpoint in patient 2557 von Neidhardt, John, Glaus, Esther, Lorenz, Birgit, Netzer, Christian, Yün Li, Schambeck, Maria, Wittmer, Mariana, Feil, Silke, Kirschner-Schwabe, Renate, Rosenberg, Thomas, Cremers, Frans P.M., Bergen, Arthur A.B., Barthelmes, Daniel, Husnia Baraki, Schmid, Fabian, Tanner, Gaby, Fleischhauer, Johannes, Orth, Ulrike, Becker, Christian, Wegscheider, Erika, Nürnberg, Gudrun, Nürnberg, Peter, Bolz, Hanno Jörn, Gal, Andreas, Berger, Wolfgang

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Location of novel and mutations identified in this study von Neidhardt, John, Glaus, Esther, Lorenz, Birgit, Netzer, Christian, Yün Li, Schambeck, Maria, Wittmer, Mariana, Feil, Silke, Kirschner-Schwabe, Renate, Rosenberg, Thomas, Cremers, Frans P.M., Bergen, Arthur A.B., Barthelmes, Daniel, Husnia Baraki, Schmid, Fabian, Tanner, Gaby, Fleischhauer, Johannes, Orth, Ulrike, Becker, Christian, Wegscheider, Erika, Nürnberg, Gudrun, Nürnberg, Peter, Bolz, Hanno Jörn, Gal, Andreas, Berger, Wolfgang

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