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Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study by van de Putte, R, van Rooij, IALM, Marcelis, CLM, Guo, M, Brunner, HG, Addor, M-C, Cavero-Carbonell, C, Dias, CM, Draper, ES, Etxebarriarteun, L, Gatt, M, Haeusler, M, Khoshnood, B, Klungsoyr, K, Kurinczuk, JJ, Lanzoni, M, Latos-Bielenska, A, Luyt, K, O'Mahony, MT, Miller, N, Mullaney, C, Nelen, V, Neville, AJ, Perthus, I, Pierini, A, Randrianaivo, H, Rankin, J, Rissmann, A, Rouget, F, Schaub, B, Tucker, D, Wellesley, D, Wiesel, A, Zymak-Zakutnia, N, Loane, M, Barisic, I, de Walle, HEK, Roeleveld, N, Bergman, JEH
Published 2019Journal article -
2
Maternal risk factors for the VACTERL association: A EUROCAT case-control study by van de Putte, R, van Rooij, IALM, Haanappel, CP, Marcelis, CLM, Brunner, HG, Addor, M-C, Cavero-Carbonell, C, Dias, CM, Draper, ES, Etxebarriarteun, L, Gatt, M, Khoshnood, B, Kinsner-Ovaskainen, A, Klungsoyr, K, Kurinczuk, JJ, Latos-Bielenska, A, Luyt, K, O'Mahony, MT, Miller, N, Mullaney, C, Nelen, V, Neville, AJ, Perthus, I, Pierini, A, Randrianaivo, H, Rankin, J, Rissmann, A, Rouget, F, Schaub, B, Tucker, D, Wellesley, D, Wiesel, A, Zymak-Zakutnia, N, Loane, M, Barisic, I, de Walle, HEK, Bergman, JEH, Roeleveld, N
Published 2020Journal article -
3
Homozygous missense variants in NTNG2, encoding a presynaptic netrin-G2 adhesion protein, lead to a distinct neurodevelopmental disorder by Dias, CM, Punetha, J, Zheng, C, Mazaheri, N, Rad, A, Efthymiou, S, Petersen, A, Dehghani, M, Pehlivan, D, Partlow, JN, Posey, JE, Salpietro, V, Gezdirici, A, Malamiri, RA, Menabawy, NM, Selim, LA, Mehrjardi, MY, Banu, S, Polla, DL, Yang, E, Varaghchi, J, Mitani, T, Van Beusekom, E, Najafi, M, Sedaghat, A, Keller-Ramey, J, Durham, L, Coban-Akdemir, Z, Karaca, E, Orlova, V, Schaeken, LLM, Sherafat, A, Jhangiani, SN, Stanley, V, Shariati, G, Galehdari, H, Gleeson, JG, Walsh, CA, Lupski, JR, Seiradake, E, Houlden, H, Van Bokhoven, H, Maroofian, R
Published 2019Journal article