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Einträge von Uyanik, Gökhan auf dem Publikationsserver
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Anzahl der Einträge: 7.
2013
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. und Pilz, Daniela T.
(2013)
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
Brain 136 (2), S. 536-548.
Volltext nicht vorhanden.
, 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. und Pilz, Daniela T.
(2013)
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
Brain 136 (2), S. 536-548.
Volltext nicht vorhanden.
2011
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 und 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), S. 20-30.
Volltext nicht vorhanden.
(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), S. 20-30.
Volltext nicht vorhanden.
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 und 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, S. 396-406.
2008
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 und 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), S. 1065-1067.
Volltext nicht vorhanden.
, Dobyns, William B und 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), S. 1065-1067.
Volltext nicht vorhanden.
2007
Yis, Uluç, Uyanik, Gökhan, Kurul, Semra, Dirik, Eray, Özer, Erdener, Gross, Claudia und Hehr, Ute
(2007)
A case of Walker–Warburg syndrome resulting from a homozygous POMT1 mutation.
European Journal of Paediatric Neurology 11 (1), S. 46-49.
Volltext nicht vorhanden.
2006
Winner, Beate , Gross, Claudia, Uyanik, Gökhan, Schulte-Mattler, Wilhelm, Lürding, Ralf, Marienhagen, Jörg, Bogdahn, Ulrich, Windpassinger, Christian, Hehr, Ute und Winkler, Jürgen
(2006)
Thin corpus callosum and amyotrophy in spastic paraplegia—Case report and review of literature.
Clinical Neurology and Neurosurgery 108 (7), S. 692-698.
Volltext nicht vorhanden.
, Gross, Claudia, Uyanik, Gökhan, Schulte-Mattler, Wilhelm, Lürding, Ralf, Marienhagen, Jörg, Bogdahn, Ulrich, Windpassinger, Christian, Hehr, Ute und Winkler, Jürgen
(2006)
Thin corpus callosum and amyotrophy in spastic paraplegia—Case report and review of literature.
Clinical Neurology and Neurosurgery 108 (7), S. 692-698.
Volltext nicht vorhanden.
2005
Balci, Burcu, Uyanik, Gökhan, Dincer, Pervin, Gross, Claudia, Willer, Tobias, Talim, Beril, Haliloglu, Göknur, Kale, Gülsev, Hehr, Ute, Winkler, Jürgen und 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), S. 271-275.
Volltext nicht vorhanden.
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