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Journal Article
Clinical Genetics, ISSN 0009-9163, 11/2014, Volume 86, Issue 5, pp. 492 - 495
Journal Article
Journal Article
Cell Death and Differentiation, ISSN 1350-9047, 08/2013, Volume 20, Issue 8, pp. 1089 - 1100
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
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2012, Volume 20, pp. 598 - 606
Meier-Gorlin syndrome (MGS) is an autosomal recessive disorder characterized by microtia, patellar aplasia/hypoplasia, and short stature. Recently, mutations... 
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 2012, Volume 158A, pp. 2733 - 2742
Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by primordial dwarfism, microtia, and patellar aplasia/hypoplasia. Recently,... 
Journal Article
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