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Khuller, Katharina and Yigit, Goekhan and Grijalva, Carolina Martinez and Altmueller, Janine and Thiele, Holger and Nurnberg, Peter and Elcioglu, Nursel H. and Yeter, Burcu and Hehr, Ute and Stein, Anja and Della Marina, Adela and Koeninger, Angela and Depienne, Christel and Kaiser, Frank J. and Wollnik, Bernd and Kuechler, Alma (2021) MFSD2A-associated primary microcephaly-Expanding the clinical and mutational spectrum of this ultra-rare disease. EUROPEAN JOURNAL OF MEDICAL GENETICS, 64 (10): 104310. ISSN 1769-7212, 1878-0849

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Wolk, Alyson and Upadhyay, Mala and Ali, Mariya and Suh, Jason and Stoehr, Heidi and Bonilha, Vera L. and Anand-Apte, Bela (2020) The retinal pigment epithelium in Sorsby Fundus Dystrophy shows increased sensitivity to oxidative stress-induced degeneration. REDOX BIOLOGY, 37: 101681. ISSN 2213-2317