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Number of items: 4.

2021

Volk, Alexander E., Hedergott, Andrea ORCID: 0000-0002-6398-3919, Preising, Markus, Rading, Sebastian, Fricke, Julia, Herkenrath, Peter, Nurnberg, Peter, Altmueller, Janine, von Ameln, Simon, Lorenz, Birgit, Neugebauer, Antje, Karsak, Meliha and Kubisch, Christian (2021). Biallelic mutations in l-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism. Hum. Genet., 140 (8). S. 1157 - 1169. NEW YORK: SPRINGER. ISSN 1432-1203

Vollersen, Nele, Zhao, Wenbo ORCID: 0000-0002-3418-9433, Rolvien, Tim, Lange, Fabiola, Schmidt, Felix Nikolai, Sonntag, Stephan, Shmerling, Doron, von Kroge, Simon, Stockhausen, Kilian Elia, Sharaf, Ahmed, Schweizer, Michaela, Karsak, Meliha, Busse, Bjoern, Bockamp, Ernesto, Semler, Oliver, Amling, Michael, Oheim, Ralf, Schinke, Thorsten and Yorgan, Timur Alexander (2021). The WNT1(G177C) mutation specifically affects skeletal integrity in a mouse model of osteogenesis imperfecta type XV. Bone Res., 9 (1). LONDON: SPRINGERNATURE. ISSN 2095-6231

2020

Karsak, Meliha, Glebov, Konstantin, Scheffold, Marina, Bajaj, Thomas, Kawalia, Amit, Karaca, Ilker, Rading, Sebastian, Kornhuber, Johannes, Peters, Oliver, Diez-Fairen, Monica ORCID: 0000-0003-1882-0309, Froelich, Lutz, Huell, Michael, Wiltfang, Jens ORCID: 0000-0003-1492-5330, Scherer, Martin, Riedel-Heller, Steffi, Schneider, Anja, Heneka, Michael T., Fliessbach, Klaus, Sharaf, Ahmed, Thiele, Holger, Lennarz, Martina, Jessen, Frank, Maier, Wolfgang, Kubisch, Christian, Ignatova, Zoya, Nuernberg, Peter, Pastor, Pau ORCID: 0000-0002-7493-8777, Walter, Jochen ORCID: 0000-0002-4678-2912 and Ramirez, Alfredo ORCID: 0000-0003-4991-763X (2020). A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2. Hum. Mutat., 41 (1). S. 169 - 182. HOBOKEN: WILEY. ISSN 1098-1004

2019

Endig, Jessica, Unrau, Ludmilla, Sprezyna, Paulina, Rading, Sebasting, Karsak, Meliha, Goltz, Diane, Heukamp, Lukas C., Tiegs, Gisa and Diehl, Linda (2019). Acute Liver Injury after CCl4 Administration Is Independent of Smad7 Expression in Myeloid Cells. Int. J. Mol. Sci., 20 (22). BASEL: MDPI. ISSN 1422-0067

This list was generated on Fri Mar 29 08:31:55 2024 CET.