Items where Author is "Parnell, Shawn E."

Article

Di Donato, Nataliya and Neuhann, Teresa and Kahlert, Anne-Karin and Klink, Barbara and Hackmann, Karl and Neuhann, Irmingard and Novotna, Barbora and Schallner, Jens and Krause, Claudia and Glass, Ian A. and Parnell, Shawn E. and Benet-Pages, Anna and Nissen, Anke M. and Berger, Wolfgang and Altmueller, Janine and Thiele, Holger and Weber, Bernhard H. F. and Schrock, Evelin and Dobyns, William B. and Bier, Andrea and Rump, Andreas (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. JOURNAL OF MEDICAL GENETICS, 53 (6). pp. 419-425. ISSN 0022-2593, 1468-6244