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PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature by Reijnders, MRF, Janowski, R, Alvi, M, Nellaker, C, Et al.
Published 2017Journal article -
2
RAC1 missense mutations in developmental disorders with diverse phenotypes by Reijnders, MRF, Ansor, NM, Kousi, M, Yue, WW, Tan, PL, Clarkson, K, Clayton-Smith, J, Corning, K, Jones, JR, Lam, WWK, Mancini, GMS, Marcelis, C, Mohammed, S, Pfundt, R, Roifman, M, Cohn, R, Chitayat, D, Millard, TH, Katsanis, N, Brunner, HG, Banka, S
Published 2017Journal article -
3
Enabling global clinical collaborations on identifiable patient data: The Minerva Initiative by Nellåker, C, Alkuraya, FS, Baynam, G, Bernier, RA, Bernier, FPJ, Boulanger, V, Brudno, M, Brunner, HG, Clayton-Smith, J, Cogné, B, Dawkins, HJS, Devries, BBA, Douzgou, S, Dudding-Byth, T, Eichler, EE, Ferlaino, M, Fieggen, K, Firth, HV, Fitzpatrick, DR, Gration, D, Groza, T, Haendel, M, Hallowell, N, Hamosh, A, Hehir-Kwa, J, Hitz, M-P, Hughes, M, Kini, U, Kleefstra, T, Kooy, RF, Krawitz, P, Küry, S, Lees, M, Lyon, GJ, Lyonnet, S, Marcadier, JL, Meyn, S, Moslerová, V, Politei, JM, Poulton, CC, Raymond, FL, Reijnders, MRF, Robinson, PN, Romano, C, Rose, CM, Sainsbury, DCG, Schofield, L, Sutton, VR, Turnovec, M, Van Dijck, A, Van Esch, H, Wilkie, AOM
Published 2019Journal article