Entries of Uyanik, Goekhan on the publication server

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 and Hehr, Ute (2015) 47 patients with FLNA associated periventricular nodular heterotopia. Orphanet Journal of Rare Diseases 10 (1). Fulltext not available.

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 and 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), pp. 555-561. Fulltext not available.

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 and 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), pp. 772-784. Fulltext not available.

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 and Winkler, Jürgen (2007) Novel POMGnT1 mutations define broader phenotypic spectrum of muscle–eye–brain disease. Neurogenetics 8 (4), pp. 279-288. Fulltext not available.

Wohlrab, Gabriele, Uyanik, Goekhan, Gross, Claudia, Hehr, Ute, Winkler, J�rgen, Schmitt, Bernhard and Boltshauser, Eugen (2005) Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation. European Journal of Pediatrics 164 (5), pp. 326-328. Fulltext not available.

Winner, Beate , Uyanik, Goekhan, Gross, Claudia, Lange, Max, Schulte-Mattler, Wilhelm, Schuierer, Gerhard, Marienhagen, Joerg, Hehr, Ute and 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), p. 117. Fulltext not available.

Couillard-Despres, Sebastien , Uyanik, Goekhan, Ploetz, Sonja, Karl, Claudia, Koch, Hartmut, Winkler, Juergen and Aigner, Ludwig (2004) Mitotic impairment by doublecortin is diminished by doublecortin mutations found in patients. neurogenetics 5 (2), pp. 83-93. Fulltext not available.

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 and Aigner, Ludwig (2003) High Efficacy of Clonal Growth and Expansion of Adult Neural Stem Cells. Laboratory Investigation 83 (7), pp. 949-962. Fulltext not available.