Items where Author is "Marquardt, Thorsten"
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Kunzelmann, Karl and Ousingsawat, Jiraporn and Kraus, Andre and Park, Julien H. and Marquardt, Thorsten and Schreiber, Rainer and Buchholz, Björn (2023) Pathogenic Relationships in Cystic Fibrosis and Renal Diseases: CFTR, SLC26A9 and Anoctamins. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 24 (17): 13278. ISSN 1661-6596, 1422-0067
Park, Julien H. and Ousingsawat, Jiraporn and Cabrita, Ines and Bettels, Ruth E. and Grosse-Onnebrink, Joerg and Schmalstieg, Christian and Biskup, Saskia and Reunert, Janine and Rust, Stephan and Schreiber, Rainer and Kunzelmann, Karl and Marquardt, Thorsten (2021) TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents. JOURNAL OF MEDICAL GENETICS, 58 (4). pp. 247-253. ISSN 0022-2593, 1468-6244
Zech, Michael and Nuebling, Georg and Castrop, Florian and Jochim, Angela and Schulte, Eva C. and Mollenhauer, Brit and Lichtner, Peter and Peters, Annette and Gieger, Christian and Marquardt, Thorsten and Vanier, Marie T. and Latour, Philippe and Kluenemann, Hans and Trenkwalder, Claudia and Diehlschmid, Janine and Perneczky, Robert and Meitinger, Thomas and Oexle, Konrad and Haslinger, Bernhard and Lorenzl, Stefan and Winkelmann, Juliane (2013) Niemann-Pick C Disease Gene Mutations and Age-Related Neurodegenerative Disorders. PLOS ONE, 8 (12): e82879. ISSN 1932-6203
Kranz, Christian and Denecke, Jonas and Lehle, Ludwig and Sohlbach, Kristina and Jeske, Stefanie and Meinhardt, Friedhelm and Rossi, Rainer and Gudowius, Sonja and Marquardt, Thorsten (2004) Congenital disorder of glycosylation type Ik (CDG-Ik): A defect of mannosyltransferase I. AMERICAN JOURNAL OF HUMAN GENETICS, 74 (3). pp. 545-551. ISSN 0002-9297, 1537-6605
Koerner, Christian and Knauer, Roland and Stephani, Ulrich and Marquardt, Thorsten and Lehle, Ludwig and von Figura, Kurt (1999) Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man : Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase. EMBO JOURNAL, 18 (23). pp. 6816-6822. ISSN 0261-4189,
