Einträge von Uyanik, Goekhan auf dem Publikationsserver

Lange, Max, Kasper, Burkhard, Bohring, Axel, Rutsch, Frank, Kluger, Gerhard, Hoffjan, Sabine, Spranger, Stephanie, Behnecke, Anne, Ferbert, Andreas, Hahn, Andreas, Oehl-Jaschkowitz, Barbara, Graul-Neumann, Luitgard, Diepold, Katharina, Schreyer, Isolde, Bernhard, Matthias K., Mueller, Franziska, Siebers-Renelt, Ulrike, Beleza-Meireles, Ana, Uyanik, Goekhan, Janssens, Sandra, Boltshauser, Eugen, Winkler, Juergen, Schuierer, Gerhard und Hehr, Ute (2015) 47 patients with FLNA associated periventricular nodular heterotopia. Orphanet Journal of Rare Diseases 10 (1). Volltext nicht vorhanden.

Hehr, Ute, Pineda-Alvarez, Daniel E., Uyanik, Goekhan, Hu, Ping, Zhou, Nan, Hehr, Andreas, Schell-Apacik, Chayim, Altus, Carola, Daumer-Haas, Cornelia, Meiner, Annechristin, Steuernagel, Peter, Roessler, Erich, Winkler, Juergen und Muenke, Maximilian (2010) Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly. Human Genetics 127 (5), S. 555-561. Volltext nicht vorhanden.

Stevanin, Giovanni , Azzedine, Hamid, Denora, Paola, Boukhris, Amir, Tazir, Meriem, Lossos, Alexander, Rosa, Alberto Luis, Lerer, Israela, Hamri, Abdelmadjid, Alegria, Paulo , Loureiro, José , Tada, Masayoshi, Hannequin, Didier, Anheim, Mathieu, Goizet, Cyril, Gonzalez-Martinez, Victoria, Le Ber, Isabelle, Forlani, Sylvie, Iwabuchi, Kiyoshi, Meiner, Vardiela, Uyanik, Goekhan, Erichsen, Anne Kjersti, Feki, Imed, Pasquier, Florence , Belarbi, Soreya, Cruz, Vitor T., Depienne, Christel, Truchetto, Jeremy, Garrigues, Guillaume, Tallaksen, Chantal, Tranchant, Christine, Nishizawa, Masatoyo, Vale, José, Coutinho, Paula , Santorelli, Filippo M., Mhiri, Chokri, Brice, Alexis und Durr, Alexandra (2007) Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain 131 (3), S. 772-784. Volltext nicht vorhanden.

Hehr, Ute, Uyanik, Goekhan, Gross, Claudia, Walter, Maggie C., Bohring, Axel, Cohen, Monika, Oehl-Jaschkowitz, Barbara, Bird, Lynne M. , Shamdeen, Ghiat M., Bogdahn, Ulrich, Schuierer, Gerhard, Topaloglu, Haluk, Aigner, Ludwig, Lochmüller, Hanns und Winkler, Jürgen (2007) Novel POMGnT1 mutations define broader phenotypic spectrum of muscle–eye–brain disease. Neurogenetics 8 (4), S. 279-288. Volltext nicht vorhanden.

Wohlrab, Gabriele, Uyanik, Goekhan, Gross, Claudia, Hehr, Ute, Winkler, J�rgen, Schmitt, Bernhard und Boltshauser, Eugen (2005) Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation. European Journal of Pediatrics 164 (5), S. 326-328. Volltext nicht vorhanden.

Winner, Beate , Uyanik, Goekhan, Gross, Claudia, Lange, Max, Schulte-Mattler, Wilhelm, Schuierer, Gerhard, Marienhagen, Joerg, Hehr, Ute und Winkler, Juergen (2004) Clinical Progression and Genetic Analysis in Hereditary Spastic Paraplegia With Thin Corpus Callosum in Spastic Gait Gene 11 (SPG11). Archives of Neurology 61 (1), S. 117. Volltext nicht vorhanden.

Couillard-Despres, Sebastien , Uyanik, Goekhan, Ploetz, Sonja, Karl, Claudia, Koch, Hartmut, Winkler, Juergen und Aigner, Ludwig (2004) Mitotic impairment by doublecortin is diminished by doublecortin mutations found in patients. neurogenetics 5 (2), S. 83-93. Volltext nicht vorhanden.

Wachs, Frank-Peter, Couillard-Despres, Sebastien , Engelhardt, Maren , Wilhelm, Daniel, Ploetz, Sonja, Vroemen, Maurice, Kaesbauer, Johanna, Uyanik, Goekhan, Klucken, Jochen, Karl, Claudia, Tebbing, Johanna, Svendsen, Clive, Weidner, Norbert, Kuhn, Hans-Georg , Winkler, Juergen und Aigner, Ludwig (2003) High Efficacy of Clonal Growth and Expansion of Adult Neural Stem Cells. Laboratory Investigation 83 (7), S. 949-962. Volltext nicht vorhanden.