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Khuller, Katharina, Yigit, Goekhan, Grijalva, Carolina Martinez, Altmueller, Janine, Thiele, Holger, Nurnberg, Peter, Elcioglu, Nursel H., Yeter, Burcu, Hehr, Ute, Stein, Anja, Della Marina, Adela, Koeninger, Angela, Depienne, Christel, Kaiser, Frank J., Wollnik, Bernd ORCID: 0000-0003-2589-0364 and Kuechler, Alma (2021). MFSD2A-associated primary microcephaly-Expanding the clinical and mutational spectrum of this ultra-rare disease. Eur. J. Med. Genet., 64 (10). AMSTERDAM: ELSEVIER. ISSN 1878-0849

Tuerk, Matthias, Schroeder, Rolf, Khuller, Katharina, Hofmann, Andreas ORCID: 0000-0003-4408-5467, Berwanger, Carolin, Ludolph, Albert C., Dekomien, Gabriele, Mueller, Kathrin, Weishaupt, Jochen H., Thiel, Christian T. and Clemen, Christoph S. (2017). Genetic analysis of VCP and WASH complex genes in a German cohort of sporadic ALS-FTD patients. Neurobiol. Aging, 56. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1558-1497

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