8 Einträge gefunden

1. Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations

   1. Bierhals, Tatjana
   2. Korenke, Georg Christoph
   3. Uyanik, Gökhan
   4. Kutsche, Kerstin

   2013 - Forschungsinformationssystem des UKE
2. CASK-Related Disorders

   1. Moog, Ute
   2. Uyanik, Gökhan
   3. Kutsche, Kerstin

   2013 - Forschungsinformationssystem des UKE
3. Overlapping cortical malformations and mutations in TUBB2B and TUBA1A

   1. Cushion, Thomas D
   2. Dobyns, William B
   3. Mullins, Jonathan G L
   4. Stoodley, Neil
   5. Chung, Seo-Kyung
   6. Fry, Andrew E
   7. Hehr, Ute

   2013 - Forschungsinformationssystem des UKE
4. Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.

   1. Yis, Uluc
   2. Uyanik, Gökhan
   3. Heck, Pinar Bambul
   4. Smitka, Martin
   5. Nobel, Hannes
   6. Ebinger, Friedrich
   7. Dirik, Eray

   2011 - Forschungsinformationssystem des UKE
5. Selective bilateral hippocampal lesions after theophylline-induced status epilepticus causes a permanent amnesic syndrome.

   1. Kohl, Z
   2. Uyanik, Gökhan
   3. Lürding, R
   4. Schuierer, G
   5. Bogdahn, U
   6. Schröder, M
   7. Weidner, N

   2011 - Forschungsinformationssystem des UKE
6. Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies.

   1. Lommel, M
   2. Cirak, S
   3. Willer, T
   4. Hermann, R
   5. Uyanik, Gökhan
   6. van Bokhoven, H
   7. Körner, C

   2010 - Forschungsinformationssystem des UKE
7. New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.

   1. Morris-Rosendahl, Deborah J
   2. Segel, Reeval
   3. Born, A Peter
   4. Conrad, Christoph
   5. Loeys, Bart
   6. Brooks, Susan Sklower
   7. Müller, Laura

   2010 - Forschungsinformationssystem des UKE
8. TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.

   1. Kumar, Ravinesh A
   2. Pilz, Daniela T
   3. Babatz, Timothy D
   4. Cushion, Thomas D
   5. Harvey, Kirsten
   6. Topf, Maya
   7. Yates, Laura

   2010 - Forschungsinformationssystem des UKE