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Number of items: 3.

Journal Article

Karakaya, M., Keller, N., Altmueller, J., Motameny, S., Thiele, H., Wunderlich, G., Kirschner, J., Schrank, B., Maroofian, R., Paketci, C., Yis, U., Nuernberg, P. and Wirth, B. (2020). Variants causing mitochondrial dysfunction are not rare in non-5q SMA: Re-evaluation of thirty families by exome sequencing. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 442 - 443. LONDON: SPRINGERNATURE. ISSN 1476-5438

Paketci, C., Karakaya, M., Edem, P., Bayram, E., Keller, N., Daimagueler, H-S, Cirak, S., Jordanova, A., Hiz, S., Wirth, B. and Yis, U. (2020). Clinical, electrophysiological and genetic characteristics of childhood hereditary polyneuropathies. Rev. Neurol., 176 (10). S. 846 - 856. MOULINEAUX CEDEX 9: MASSON EDITEUR. ISSN 2213-0004

Yis, U., Becker, K., Kurul, S., Uyanik, G., Bayram, E., Haliloglu, G., Polat, I., Ayanoglu, M., Okur, D., Tosun, A., Serdaroglu, G., Yilmaz, S., Topaloglu, H., Anlar, B., Cirak, S. and Engel, A. (2017). Genetic Landscape of congenital myasthenic syndroms from Turkey: novel mutations and clinical insights. Neuromusc. Disord., 27. S. S221 - 1. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

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