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Journal Article

Di Donato, Nataliya ORCID: 0000-0001-9439-4677, Neuhann, Teresa, Kahlert, Anne-Karin, Klink, Barbara, Hackmann, Karl, Neuhann, Irmingard, Novotna, Barbora, Schallner, Jens, Krause, Claudia, Glass, Ian A., Parnell, Shawn E., Benet-Pages, Anna, Nissen, Anke M., Berger, Wolfgang, Altmueller, Janine, Thiele, Holger, Weber, Bernhard H. F., Schrock, Evelin, Dobyns, William B., Bier, Andrea and Rump, Andreas ORCID: 0000-0001-7116-6364 (2016). Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. J. Med. Genet., 53 (6). S. 419 - 426. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

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