Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport disease von Rath, Matthias, Korenke, G. Christoph, Najm, Juliane, Hoffmann, Georg F., Hagendorff, Angela, Strom, Tim M., Felbor, Ute

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Disruption of Neurexin 1 Associated with Autism Spectrum Disorder von Kim, Hyung-Goo, Kishikawa, Shotaro, Higgins, Anne W., Seong, Ihn-Sik, Donovan, Diana J., Shen, Yiping, Lally, Eric, Weiss, Lauren A., Najm, Juliane, Kutsche, Kerstin, Descartes, Maria, Holt, Lynn, Braddock, Stephen, Troxell, Robin, Kaplan, Lee, Volkmar, Fred, Klin, Ami, Tsatsanis, Katherine, Harris, David J., Noens, Ilse, Pauls, David L., Daly, Mark J., MacDonald, Marcy E., Morton, Cynthia C., Quade, Bradley J., Gusella, James F.

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Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum von Chizhikov, Victor V, Uyanik, Gökhan, Kuechler, Alma, Kutsche, Kerstin, Flubacher, Armin, Charnas, Lawrence R, Golden, Jeffrey A, Haas, Carola A, Frank, Ulrich, Ullmann, Reinhard, Klopocki, Eva, Dobyns, William B, Sudi, Jyotsna, Wimplinger, Isabella, Christian, Susan L, Horn, Denise, Najm, Juliane

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Thrombin Generation in Two Families with Myh-9-Related Platelet Disorder von Zetterberg, Eva, Carlsson Alle, Margareta S, Najm, Juliane, Greinacher, Andreas

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The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module von VAN RAHDEN, Vanessa A, BRAND, Kristina, NAJM, Juliane, HEEREN, Joerg, PFEFFER, Suzanne R, BRAULKE, Thomas, KUTSCHE, Kerstin

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Thrombin generation in two families with MYH9-related platelet disorder von Zetterberg, Eva, Carlsson Alle, Margareta S, Najm, Juliane, Greinacher, Andreas

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A patient with Fechtner syndrome successfully treated with romiplostim von Gröpper, Stefanie, Althaus, Karin, Najm, Juliane, Haase, Sabine, Aul, Carlo, Greinacher, Andreas, Giagounidis, Aristoteles

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Predictive genetic testing of at-risk relatives requires analysis of all CCM genes after identification of an unclassified CCM1 variant in an individual affected with cerebral cave... von Schröder, Winnie, Najm, Juliane, Spiegler, Stefanie, Mair, Martina, Viera, Julio, Henn, Wolfram, Felbor, Ute

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High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one‐third of probands are minors von Spiegler, Stefanie, Najm, Juliane, Liu, Jian, Gkalympoudis, Stephanie, Schröder, Winnie, Borck, Guntram, Brockmann, Knut, Elbracht, Miriam, Fauth, Christine, Ferbert, Andreas, Freudenberg, Leonie, Grasshoff, Ute, Hellenbroich, Yorck, Henn, Wolfram, Hoffjan, Sabine, Hüning, Irina, Korenke, G. Christoph, Kroisel, Peter M., Kunstmann, Erdmute, Mair, Martina, Munk‐Schulenburg, Susanne, Nikoubashman, Omid, Pauli, Silke, Rudnik‐Schöneborn, Sabine, Sudholt, Irene, Sure, Ulrich, Tinschert, Sigrid, Wiednig, Michaela, Zoll, Barbara, Ginsberg, Mark H., Felbor, Ute

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Mukoviszidose: Screening im Neugeborenenalter und mutationsspezifische Therapieansätze von Rath, Matthias, Najm, Juliane, Gilberg, Eberhard, Felbor, Ute

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Mukoviszidose von Rath, Matthias, Najm, Juliane, Gilberg, Eberhard, Felbor, Ute

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Erratum: Corrigendum: Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum von Najm, Juliane, Horn, Denise, Wimplinger, Isabella, Golden, Jeffrey A, Chizhikov, Victor V, Sudi, Jyotsna, Christian, Susan L, Ullmann, Reinhard, Kuechler, Alma, Haas, Carola A, Flubacher, Armin, Charnas, Lawrence R, Uyanik, Gökhan, Frank, Ulrich, Klopocki, Eva, Dobyns, William B, Kutsche, Kerstin

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Correction: Corrigendum: Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum von Najm, Juliane, Horn, Denise, Wimplinger, Isabella, Golden, Jeffrey A, Chizhikov, Victor V, Sudi, Jyotsna, Christian, Susan L, Ullmann, Reinhard, Kuechler, Alma, Haas, Carola A, Flubacher, Armin, Charnas, Lawrence R, Uyanik, Gökhan, Frank, Ulrich, Klopocki, Eva, Dobyns, William B, Kutsche, Kerstin

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Corrigendum: Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum von Najm, Juliane, Horn, Denise, Wimplinger, Isabella, Golden, Jeffrey A, Chizhikov, Victor V, Sudi, Jyotsna, Christian, Susan L, Ullmann, Reinhard, Kuechler, Alma, Haas, Carola A, Flubacher, Armin, Charnas, Lawrence R, Uyanik, Gökhan, Frank, Ulrich, Klopocki, Eva, Dobyns, William B, Kutsche, Kerstin

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High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors von Spiegler, Stefanie, Najm, Juliane, Liu, Jian, Gkalympoudis, Stephanie, Schröder, Winnie, Borck, Guntram, Brockmann, Knut, Elbracht, Miriam, Fauth, Christine, Ferbert, Andreas, Freudenberg, Leonie, Grasshoff, Ute, Hellenbroich, Yorck, Henn, Wolfram, Hoffjan, Sabine, Hüning, Irina, Korenke, G Christoph, Kroisel, Peter M, Kunstmann, Erdmute, Mair, Martina, Munk-Schulenburg, Susanne, Nikoubashman, Omid, Pauli, Silke, Rudnik-Schöneborn, Sabine, Sudholt, Irene, Sure, Ulrich, Tinschert, Sigrid, Wiednig, Michaela, Zoll, Barbara, Ginsberg, Mark H, Felbor, Ute

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Disruption of neurexin 1 associated with autism spectrum disorder von Kim, Hyung-Goo, Kishikawa, Shotaro, Higgins, Anne W, Seong, Ihn-Sik, Donovan, Diana J, Shen, Yiping, Lally, Eric, Weiss, Lauren A, Najm, Juliane, Kutsche, Kerstin, Descartes, Maria, Holt, Lynn, Braddock, Stephen, Troxell, Robin, Kaplan, Lee, Volkmar, Fred, Klin, Ami, Tsatsanis, Katherine, Harris, David J, Noens, Ilse, Pauls, David L, Daly, Mark J, MacDonald, Marcy E, Morton, Cynthia C, Quade, Bradley J, Gusella, James E

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Untersuchungen zum Einfluss des bei Patienten mit Lowe-Syndrom mutierten humanen OCRL-Proteins auf endozytotische Prozesse in eukaryotischen Zellen von Najm, Juliane

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Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport disease von Rath, Matthias, Korenke, G Christoph, Najm, Juliane, Hoffmann, Georg F, Hagendorff, Angela, Strom, Tim M, Felbor, Ute

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