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South African Medical Journal, ISSN 0256-9574, 05/2019, Volume 109, Issue 6, p. 371
Journal Article
Clinical Genetics, ISSN 0009-9163, 05/2015, Volume 87, Issue 5, pp. 492 - 495
Journal Article
South African Medical Journal, ISSN 0256-9574, 03/2016, Volume 106, Issue 3, pp. 253 - 255
Dominantly inherited digitotalar dysmorphism (DTD), which is characterised by flexion contractures of digits and 'rocker-bottom' feet due to a vertical talus,... 
Journal Article
Pharmacogenomics Journal, ISSN 1470-269X, 12/2017, Volume 17, Issue 6, pp. 515 - 520
Journal Article
Ophthalmology, ISSN 0161-6420, 2017, Volume 124, Issue 7, pp. 992 - 1003
Journal Article
South African Medical Journal, ISSN 0256-9574, 06/2016, Volume 106, pp. S33 - S37
Retinal degenerative disorders (RDDs) encompass a group of inherited diseases characterised by vision loss. The genetic and clinical complexity poses a... 
Journal Article
South African Medical Journal, ISSN 0256-9574, 10/2013, Volume 103, Issue 10, pp. 702 - 703
Gene-based therapies for inherited retinal degenerative diseases (RDDs) have gained momentum in the past 5 years, and there are currently several early-stage... 
Journal Article
South African Medical Journal, ISSN 0256-9574, 06/2016, Volume 106, Issue 6, pp. S33 - S37
Journal Article
Journal of Epidemiology and Community Health, ISSN 0143-005X, 07/2010, Volume 64, Issue 7, pp. 585 - 586
Journal Article
Journal Article
by Kaput, J and Cotton, R.G and Hardman, L and Watson, M and Aqeel, A.I. Al and Al-Aama, J.Y and Al-Mulla, F and Alonso, S and Aretz, S and Auerbach, A.D and Bapat, B and Bernstein, I.T and Bhak, J and Bleoo, S.L and Blocker, H and Brenner, S.E and Burn, J and Bustamante, M and Calzone, R and Cambon-Thomsen, A and Cargill, M and Carrera, P and Cavedon, L and Cho, Y.S and Chung, Y.J and Claustres, M and Cutting, G and Dalgleish, R and Dunnen, J.T. den and Diaz, C and Dobrowolski, S and Santos, M.R. dos and Ekong, R and Flanagan, S.B and Flicek, P and Furukawa, Y and Genuardi, M and Ghang, H and Golubenko, M.V and Greenblatt, M.S and Hamosh, A and Hancock, J.M and Hardison, R and Harrison, T.M and Hoffmann, R and Horaitis, R and Howard, H.J and Barash, C.I and Izagirre, N and Jung, J and Kojima, T and Laradi, S and Lee, Y.S and Lee, J.Y and Gil-da-Silva-Lopes, V.L and Macrae, F.A and Maglott, D and Marafie, M.J and Marsh, S.G and Matsubara, Y and Messiaen, L.M and Moslein, G and Netea, M.G and Norton, M.L and Oefner, P.J and Oetting, W.S and O'Leary, J.C and Ramirez, A.M. de and Paalman, M.H and Parboosingh, J and Patrinos, G.P and Perozzi, G and Phillips, I.R and Povey, S and Prasad, S and Qi, M and Quin, D.J and Ramesar, R.S and Richards, C.S and Savige, J and Scheible, D.G and Scott, R.J and Seminara, D and Shephard, E.A and Sijmons, R.H and Smith, T.D and Sobrido, M.J and Tanaka, T and Tavtigian, S.V and Taylor, G.R and Teague, J and Topel, T and Ullman-Cullere, M and Utsunomiya, J and Kranen, H.J. van and Vihinen, M and Webb, E and Weber, T.K and Yeager, M and Human Variome Project Planning and Contributors to the Human Variome Project Planning Meeting and on behalf of contributors to the Human Variome Project Planning Meeting
Human Mutation, ISSN 1059-7794, 2009, Volume 30, Issue 4, pp. 496 - 510
Journal Article
South African Journal of Surgery, ISSN 0038-2361, 2011, Volume 48, Issue 4, p. 109
Journal Article
Journal Article
AMERICAN JOURNAL OF HUMAN GENETICS, ISSN 0002-9297, 10/2001, Volume 69, Issue 4, pp. 379 - 379
Conference Proceeding
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