Next-generation sequencing in X-linked intellectual disability
Tzschach, Andreas, Grasshoff, Ute, Beck-Woedl, Stefanie, Dufke, Claudia, Bauer, Claudia, Kehrer, Martin, Evers, Christina, Moog, Ute, Oehl-Jaschkowitz, Barbara, Di Donato, Nataliya, Maiwald, Robert, Jung, Christine, Kuechler, Alma, Schulz, Solveig, Meinecke, Peter, Spranger, Stephanie, Kohlhase, Jürgen, Seidel, Jörg, Reif, Silke, Rieger, Manuela, Riess, Angelika, Sturm, Marc, Bickmann, Julia, Schroeder, Christopher, Dufke, Andreas, Riess, Olaf, Bauer, Peter
Published in European journal of human genetics : EJHG (04.02.2015)
Published in European journal of human genetics : EJHG (04.02.2015)
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Hereditary cutaneous leiomyomatosis and low-grade glioma due to a fumarate hydratase mutation
Laske, Jörg, Meinhardt, Matthias, Reif, Silke, Grossmann, Maria, Peitzsch, Mirko, Daubner, Dirk, Schackert, Gabriele, Pietsch, Torsten, Meier, Friedegund, Juratli, Tareq A, Richter, Susan
Published in Journal of the European Academy of Dermatology and Venereology (04.06.2024)
Published in Journal of the European Academy of Dermatology and Venereology (04.06.2024)
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Next-generation sequencing in X-linked intellectual disability
Tzschach, Andreas, Grasshoff, Ute, Beck-Woedl, Stefanie, Dufke, Claudia, Bauer, Claudia, Kehrer, Martin, Evers, Christina, Moog, Ute, Oehl-Jaschkowitz, Barbara, Di Donato, Nataliya, Maiwald, Robert, Jung, Christine, Kuechler, Alma, Schulz, Solveig, Meinecke, Peter, Spranger, Stephanie, Kohlhase, Jürgen, Seidel, Jörg, Reif, Silke, Rieger, Manuela, Riess, Angelika, Sturm, Marc, Bickmann, Julia, Schroeder, Christopher, Dufke, Andreas, Riess, Olaf, Bauer, Peter
Published in European journal of human genetics : EJHG (01.11.2015)
Published in European journal of human genetics : EJHG (01.11.2015)
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A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8
Jahic, Amir, Kreuz, Friedmar, Zacher, Pia, Fiedler, Jana, Bier, Andrea, Reif, Silke, Rieger, Manuela, Krüger, Stefan, Beetz, Christian, Plaschke, Jens
Published in Journal of the neurological sciences (15.12.2014)
Published in Journal of the neurological sciences (15.12.2014)
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A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C symphalangism-like phenotype or brachydactyly type A2
LEHMANN, Katarina, SEEMANN, Petra, BOERGERMANN, Jan, MORIN, Gilles, REIF, Silke, KNAUS, Petra, MUNDLOS, Stefan
Published in European journal of human genetics : EJHG (01.12.2006)
Published in European journal of human genetics : EJHG (01.12.2006)
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SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome
Zenker, Martin, Horn, Denise, Wieczorek, Dagmar, Allanson, Judith, Pauli, Silke, van der Burgt, Ineke, Doerr, Helmuth-Guenther, Gaspar, Harald, Hofbeck, Michael, Gillessen-Kaesbach, Gabriele, Koch, Andreas, Meinecke, Peter, Mundlos, Stefan, Nowka, Anja, Rauch, Anita, Reif, Silke, von Schnakenburg, Christian, Seidel, Heide, Wehner, Lars-Erik, Zweier, Christiane, Bauhuber, Susanne, Matejas, Verena, Kratz, Christian P, Thomas, Christoph, Kutsche, Kerstin
Published in Journal of medical genetics (01.10.2007)
Published in Journal of medical genetics (01.10.2007)
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Schimke immunoosseous dysplasia: suggestions of genetic diversity
Clewing, J. Marietta, Fryssira, Helen, Goodman, David, Smithson, Sarah F., Sloan, Emily A., Lou, Shu, Huang, Yan, Choi, Kunho, Lücke, Thomas, Alpay, Harika, André, Jean-Luc, Asakura, Yumi, Biebuyck-Gouge, Nathalie, Bogdanovic, Radovan, Bonneau, Dominique, Cancrini, Caterina, Cochat, Pierre, Cockfield, Sandra, Collard, Laure, Cordeiro, Isabel, Cormier-Daire, Valerie, Cransberg, Karlien, Cutka, Karel, Deschenes, Georges, Ehrich, Jochen H.H., Fründ, Stefan, Georgaki, Helen, Guillen-Navarro, Encarna, Hinkelmann, Barbara, Kanariou, Maria, Kasap, Belde, Kilic, Sara Sebnem, Lama, Guiliana, Lamfers, Petra, Loirat, Chantal, Majore, Silvia, Milford, David, Morin, Denis, Özdemir, Nihal, Pontz, Bertram F., Proesmans, Willem, Psoni, Stavroula, Reichenbach, Herbert, Reif, Silke, Rusu, Cristina, Saraiva, Jorge M., Sakallioglu, Onur, Schmidt, Beate, Shoemaker, Lawrence, Sigaudy, Sabine, Smith, Graham, Sotsiou, Flora, Stajic, Natasa, Stein, Anja, Stray-Pedersen, Asbjørg, Taha, Doris, Taque, Sophie, Tizard, Jane, Tsimaratos, Michel, Wong, Newton A.C.S., Boerkoel, Cornelius F.
Published in Human mutation (01.03.2007)
Published in Human mutation (01.03.2007)
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