Publikationen von 0000-0002-7780-4707
(ORCID: 0000-0002-7780-4707)

Herbst, Saskia M., Proepper, Christiane R., Geis, Tobias, Borggraefe, Ingo, Hahn, Andreas, Debus, Otfried, Haeussler, Martin, von Gersdorff, Gero, Kurlemann, Gerhard, Ensslen, Matthias, Beaud, Nathalie, Budde, Joerg, Gilbert, Michael, Heiming, Ralf, Morgner, Rita, Philippi, Heike, Ross, Sophia, Strobl-Wildemann, Gertrud, Muelleder, Kerstin, Vosschulte, Paul, Morris-Rosendahl, Deborah J. , Schuierer, Gerhard und Hehr, Ute (2016) LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs. Brain and Development 38 (4), S. 399-406. Volltext nicht vorhanden.

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.

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.

Morris‐Rosendahl, DJ , Najm, J, Lachmeijer, AMA, Sztriha, L, Martins, M, Kuechler, A, Haug, V, Zeschnigk, C, Martin, P, Santos, M, Vasconcelos, C , Omran, H, Kraus, U, Van der Knaap, MS, Schuierer, G, Kutsche, K und Uyanik, G (2008) Refining the phenotype of α‐1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly. Clinical Genetics 74 (5), S. 425-433. Volltext nicht vorhanden.

Uyanik, G., Morris-Rosendahl, D. J. , Stiegler, J., Klapecki, J., Gross, C., Berman, Y., Martin, P., Dey, L., Spranger, S., Korenke, G. C., Schreyer, I., Hertzberg, C., Neumann, T. E., Burkart, P., Spaich, C., Meng, M., Holthausen, H., Adès, L., Seidel, J., Mangold, E., Buyse, G., Meinecke, P., Schara, U., Zeschnigk, C., Muller, D., Helland, G., Schulze, B., Wright, M. L., Kortge-Jung, S., Hehr, A., Bogdahn, U., Schuierer, G., Kohlhase, J., Aigner, L., Wolff, G., Hehr, U. und Winkler, J. (2007) Location and type of mutation in the LIS1 gene do not predict phenotypic severity. Neurology 69 (5), S. 442-447. Volltext nicht vorhanden.

Aigner, L., Uyanik, G., Couillard-Despres, S., Ploetz, S., Wolff, G., Morris-Rosendahl, D. , Martin, P., Eckel, U., Spranger, S., Otte, J., Woerle, H., Holthausen, H., Apheshiotis, N., Fluegel, D. und Winkler, J. (2003) Somatic mosaicism and variable penetrance in doublecortin -associated migration disorders. Neurology 60 (2), S. 329-332. Volltext nicht vorhanden.