Am J Hum Genet American journal of human genetics, 107(5), 989-999. Cell Press American Journal of Human Genetics, 107(5), 989-999. CELL PRESS van Dijk, F S, Semler, O, Etich, J, Köhler, A, Jimenez-Estrada, J A, Bravenboer, N, Claeys, L, Riesebos, E, Gegic, S, Piersma, S R, Jimenez, C R, Waisfisz, Q, Flores, C L, Nevado, J, Harsevoort, A J, Janus, G J M, Franken, A A M, van der Sar, A M, Meijers-Heijboer, H, Heath, K E, Lapunzina, P, Nikkels, P G J, Santen, G W E, Nüchel, J, Plomann, M, Wagener, R, Rehberg, M, Hoyer-Kuhn, H, Eekhoff, E M W, Pals, G, Mörgelin, M, Newstead, S, Wilson, B T, Ruiz-Perez, V L, Maugeri, A, Netzer, C, Zaucke, F & Micha, D 2020, ' Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2 ', American journal of human genetics, vol. 107, no. 5, pp. 989-999 . https://doi.org/10.1016/j.ajhg.2020.09.009 Digital.CSIC. Repositorio Institucional del CSIC instname
Human Mutation, 39(5), 653-665. Wiley-Liss Inc. Paff, T, Kooi, I E, Moutaouakil, Y, Riesebos, E, Sistermans, E A, Daniels, H J M A, Weiss, J M M, Niessen, H H W M, Haarman, E G, Pals, G & Micha, D 2018, ' Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients ', Human Mutation, vol. 39, no. 5, pp. 653-665 . https://doi.org/10.1002/humu.23403