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Number of items: 15.

Journal Article

Dafsari, Hormos Salimi, Sprute, Rosanne ORCID: 0000-0003-2457-6437, Wunderlich, Gilbert, Daimagueler, Huelya-Sevcan, Karaca, Ezgi ORCID: 0000-0002-4926-7991, Contreras, Adriana, Becker, Kerstin, Schulze-Rhonhof, Mira, Kiening, Karl, Karakulak, Tulay ORCID: 0000-0002-4644-2774, Kloss, Manja, Horn, Annette, Pauls, Amande, Nuernberg, Peter, Altmueller, Janine, Thiele, Holger, Assmann, Birgit, Koy, Anne and Cirak, Sebahattin (2019). Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia. J. Hum. Genet., 64 (8). S. 803 - 814. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1435-232X

Romeike, Bernd F. M., Becker, Kerstin, Grosskreutz, Julian ORCID: 0000-0001-9525-1424, Schulz, Solveig, Weis, Joachim and Cirak, Sebahattin (2019). A family with limb girdle muscular dystrophy type 1B and multiple exostoses. Clin. Neuropathol., 38 (5). S. 225 - 233. DEISENHOFEN-MUENCHEN: DUSTRI-VERLAG DR KARL FEISTLE. ISSN 0722-5091

Yis, Uluc, Becker, Kerstin, Yilmaz, Sebnem and Cirak, Sebahattin (2018). Acanthocytosis and HyperCKemia. Turk. J. Hematol., 35 (4). S. 296 - 298. FINDIKZADE: GALENOS YAYINCILIK. ISSN 1308-5263

Ghosh, Shereen G., Becker, Kerstin, Huang, He, Salazar, Tracy D., Chai, Guoliang, Salpietro, Vincenzo, Al-Gazali, Lihadh, Waisfisz, Quinten, Wang, Haicui, Vaux, Keith K., Stanley, Valentina, Manole, Andreea, Akpulat, Ugur, Weiss, Marjan M., Efthymiou, Stephanie, Hanna, Michael G., Minetti, Carlo, Striano, Pasquale ORCID: 0000-0002-6065-1476, Pisciotta, Livia, De Grandis, Elisa, Altmueller, Janine, Nuernberg, Peter, Thiele, Holger, Yis, Uluc, Okur, Tuncay Derya, Polat, Ayse Ipek, Amiri, Nafise, Doosti, Mohammad, Karimani, Ehsan Ghayoor, Toosi, Mehran B., Haddad, Gabriel, Karakaya, Mert, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, van Hagen, Johanna M., Wolf, Nicole I., Maroofian, Reza, Houlden, Henry, Cirak, Sebahattin and Gleeson, Joseph G. (2018). Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. Am. J. Hum. Genet., 103 (3). S. 431 - 440. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Koy, Anne, Cirak, Sebahattin, Gonzalez, Victoria, Becker, Kerstin, Roujeau, Thomas, Milesi, Christophe, Baleine, Julien, Cambonie, Gilles, Boularan, Alain, Greco, Frederic, Perrigault, Pierre-Francois, Cances, Claude, Dorison, Nathalie, Doummar, Diane, Roubertie, Agathe, Beroud, Christophe, Koerber, Friederike, Stueve, Burkhard, Waltz, Stephan, Mignot, Cyril, Nava, Caroline ORCID: 0000-0003-1272-0518, Maarouf, Mohammad, Coubes, Philippe and Cif, Laura (2018). Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia. J. Neurol. Sci., 391. S. 31 - 40. AMSTERDAM: ELSEVIER SCIENCE BV. ISSN 1878-5883

Fazeli, Walid, Becker, Kerstin, Herkenrath, Peter, Duechting, Christoph, Koerber, Friederike, Landgraf, Pablo, Nuernberg, Peter, Altmueller, Janine, Thiele, Holger, Koy, Anne, Liebau, Max C., Simon, Thorsten, Doetsch, Joerg and Cirak, Sebahattin (2018). Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development. Neuropediatrics, 49 (6). S. 379 - 385. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-1899

Broekaert, Ilse Julia, Becker, Kerstin, Gottschalk, Ingo, Koerber, Friederike, Doetsch, Joerg, Thiele, Holer, Altmueller, Janine, Nuernberg, Peter, Huenseler, Christoph and Cirak, Sebahattin (2018). Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy. J. Med. Genet., 55 (9). S. 637 - 641. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

Akpulat, Ugur, Wang, Haicui, Becker, Kerstin, Contreras, Adriana, Partridge, Terence A., Novak, James S. and Cirak, Sebahattin (2018). Shorter Phosphorodiamidate Morpholino Splice-Switching Oligonucleotides May Increase Exon-Skipping Efficacy in DMD. Mol. Ther.-Nucl. Acids, 13. S. 534 - 543. CAMBRIDGE: CELL PRESS. ISSN 2162-2531

Yis, Uluc, Becker, Kerstin and Cirak, Sebahattin (2018). A boy with neck weakness. Neuromusc. Disord., 28 (3). S. 236 - 238. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

Bamborschke, Daniel, Pergande, Matthias, Becker, Kerstin, Koerber, Friederike, Doetsch, Joerg, Vierzig, Anne, Weber, Lutz T. and Cirak, Sebahattin (2018). A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation. Brain Dev., 40 (6). S. 480 - 484. AMSTERDAM: ELSEVIER SCIENCE BV. ISSN 1872-7131

Yis, Uluc, Becker, Kerstin, Kurul, Semra Hiz, Uyanik, Goekhan, Bayram, Erhan, Haliloglu, Goknur, Polat, Ayse Ipek, Ayanoglu, Muge, Okur, Derya, Tosun, Ayse Fahriye, Serdaroglu, Gul, Yilmaz, Sanem, Topaloglu, Haluk, Anlar, Banu, Cirak, Sebahattin and Engel, Andrew G. (2017). Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights. J. Child Neurol., 32 (8). S. 759 - 766. THOUSAND OAKS: SAGE PUBLICATIONS INC. ISSN 1708-8283

Ng, Michael, Thakkar, Dipti, Southam, Lorraine, Werker, Paul, Ophoff, Roel, Becker, Kerstin, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Franke, Andre ORCID: 0000-0003-1530-5811, Nuernberg, Peter, Espirito-Santo, Ana Isabel, Izadi, David, Hennies, Hans Christian, Nanchahal, Jagdeep, Zeggini, Eleftheria and Furniss, Dominic (2017). A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis. Am. J. Hum. Genet., 101 (3). S. 417 - 428. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Wang, Haicui, Castiglioni, Claudia ORCID: 0000-0002-1981-7550, Bayram, Ayse Kacar, Fattori, Fabiana ORCID: 0000-0002-1820-8489, Pekuz, Serdar, Araneda, Diego, Per, Huseyin, Erazo, Ricardo, Gumus, Hakan, Zorludemir, Suzan, Becker, Kerstin, Ortega, Ximena, Alfredo Bevilacqua, Jorge, Bertini, Enrico ORCID: 0000-0001-9276-4590 and Cirak, Sebahattin (2017). Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy. Neuromusc. Disord., 27 (9). S. 836 - 843. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

Haliloglu, Goknur, Becker, Kerstin, Temucin, Cagri, Talim, Beril, Kucuksahin, Nalan, Pergande, Matthias, Motameny, Susanne, Nurnberg, Peter, Aydingoz, Ustun ORCID: 0000-0002-4325-847X, Topaloglu, Haluk and Cirak, Sebahattin (2017). Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. J. Hum. Genet., 62 (4). S. 497 - 502. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1435-232X

Thesis

Becker, Kerstin (2012). Molecular Genetics of Dupuytren´s Disease. PhD thesis, Universität zu Köln.

This list was generated on Fri Oct 23 14:20:16 2020 CEST.