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Vig, A. and Poulter, J.A. and Ottaviani, D. and Tavares, E. and Toropova, K. and Tracewska, A.M. and Mollica, A. and Kang, J. and Kehelwathugoda, O. and Paton, T. and Maynes, J.T. and Wheway, G. and Arno, G. and Genomics England Research, C. and Khan, K.N. and McKibbin, M. and Toomes, C. and Ali, M. and Di Scipio, M. and Li, S. and Ellingford, J. and Black, G. and Webster, A. and Rydzanicz, M. and Stawiński, P. and Płoski, R. and Vincent, A. and Cheetham, M.E. and Inglehearn, C.F. and Roberts, Anthony J. and Heon, E. (2020) DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration. Genetics in Medicine 22 (12), pp. 2041-2051. ISSN 1530-0366.
Book Section
Anelli, V.W. and Calì, Andrea and Di Noia, T. and Palmonari, M. and Ragone, A. (2016) Exposing open street map in the linked data cloud. In: Fujita, H. and Ali, M. and Selamat, A. and Sasaki, J. and Kurematsu, M. (eds.) Trends in Applied Knowledge-Based Systems and Data Science. Lecture Notes in Computer Science 9799. Cham, Switzerland: Springer, pp. 344-355. ISBN 9783319420066.