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Journal Article
Bolz, Hanno Joern, Heller, Raoul, Thoenes, Michaela, Nuernberg, Gudrun, Nuernberg, Peter, Karnati, Srikanth, Swan, Daniel, Baumgart-Vogt, Eveline ORCID: 0000-0002-8265-3763 and Zaki, Maha (2015). PEX6 mutation causing deaf blindness with enamel dysplasia and microcephaly. Invest. Ophthalmol. Vis. Sci., 56 (7). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783
Zaki, Maha ORCID: 0000-0001-7840-0002, Thoenes, Michaela, Kawalia, Amit, Nuernberg, Peter, Kaiser, Rolf, Heller, Raoul and Bolz, Hanno J. (2017). Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation. Front. Genet., 8. LAUSANNE: FRONTIERS MEDIA SA. ISSN 1664-8021