Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual) Universidade de São Paulo (USP) instacron:USP Human Mutation, 43, 7, pp. 900-918 Human Mutation, 43, 900-918 Hum Mutat
Eur J Hum Genet European Journal of Human Genetics, 27, 7, pp. 1101-1112 European Journal of Human Genetics, 27(7), 1101. Nature Publishing Group European Journal of Human Genetics, 27, 1101-1112 Khandelwal, K D, van den Boogaard, M-J H, Mehrem, S L, Gebel, J, Fagerberg, C, van Beusekom, E, van Binsbergen, E, Topaloglu, O, Steehouwer, M, Gilissen, C, Ishorst, N, van Rooij, I A L M, Roeleveld, N, Christensen, K, Schoenaers, J, Bergé, S, Murray, J C, Hens, G, Devriendt, K, Ludwig, K U, Mangold, E, Hoischen, A, Zhou, H, Dötsch, V, Carels, C E L & van Bokhoven, H 2019, ' Deletions and loss-of-function variants in TP63 associated with orofacial clefting ', European Journal of Human Genetics, vol. 27, no. 7, pp. 1101-1112 . https://doi.org/10.1038/s41431-019-0370-0
Clinical Chemistry, 65, 1295-1306 Clinical Chemistry, 65, 10, pp. 1295-1306 Clinical Chemistry, 65(10), 1295-1306. American Association for Clinical Chemistry van Tol, W, van Scherpenzeel, M, Alsady, M, Riemersma, M, Hermans, E, Kragt, E, Tasca, G, Kamsteeg, E-J, Pennings, M, van Beusekom, E, Vermeulen, J R, van Bokhoven, H, Voermans, N C, Willemsen, M A, Ashikov, A & Lefeber, D J 2019, ' Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy ', Clinical Chemistry, vol. 65, no. 10, pp. 1295-1306 . https://doi.org/10.1373/clinchem.2019.305391 Clinical Chemistry, 65(10), 1295-1306