Entries of Uyanik, Gökhan on the publication server

Cushion, Thomas D. , Dobyns, William B. , Mullins, Jonathan G. L. , Stoodley, Neil, Chung, Seo-Kyung , Fry, Andrew E., Hehr, Ute, Gunny, Roxana, Aylsworth, Arthur S., Prabhakar, Prab, Uyanik, Gökhan, Rankin, Julia, Rees, Mark I. and Pilz, Daniela T. (2013) Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. Brain 136 (2), pp. 536-548. Fulltext not available.

Yis, Uluc, Uyanik, Gökhan, Heck, Pinar Bambul, Smitka, Martin, Nobel, Hannes, Ebinger, Friedrich, Dirik, Eray, Feng, Lucy, Kurul, Semra H., Brocke, Katja, Unalp, Aycan, Özer, Erdener, Cakmakci, Handan, Sewry, Caroline, Cirak, Sebahattin, Muntoni, Francesco, Hehr, Ute and Morris-Rosendahl, Deborah J. (2011) Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: Less severe mutations predominate in patients with a non-Walker-Warburg phenotype. Neuromuscular Disorders 21 (1), pp. 20-30. Fulltext not available.

Kortüm, Fanny, Das, Soma, Flindt, Max, Uyanik, Gökhan , make_name_string expected hash reference , make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference , make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference , make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference and make_name_string expected hash reference (2011) The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. Journal of Medical Genetics 48, pp. 396-406.

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 and Kutsche, Kerstin (2008) Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nature Genetics 40 (9), pp. 1065-1067. Fulltext not available.

Yis, Uluç, Uyanik, Gökhan, Kurul, Semra, Dirik, Eray, Özer, Erdener, Gross, Claudia and Hehr, Ute (2007) A case of Walker–Warburg syndrome resulting from a homozygous POMT1 mutation. European Journal of Paediatric Neurology 11 (1), pp. 46-49. Fulltext not available.

Winner, Beate , Gross, Claudia, Uyanik, Gökhan, Schulte-Mattler, Wilhelm, Lürding, Ralf, Marienhagen, Jörg, Bogdahn, Ulrich, Windpassinger, Christian, Hehr, Ute and Winkler, Jürgen (2006) Thin corpus callosum and amyotrophy in spastic paraplegia—Case report and review of literature. Clinical Neurology and Neurosurgery 108 (7), pp. 692-698. Fulltext not available.

Balci, Burcu, Uyanik, Gökhan, Dincer, Pervin, Gross, Claudia, Willer, Tobias, Talim, Beril, Haliloglu, Göknur, Kale, Gülsev, Hehr, Ute, Winkler, Jürgen and Topaloğlu, Haluk (2005) An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker–Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. Neuromuscular Disorders 15 (4), pp. 271-275. Fulltext not available.