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Now showing items 51-67 of 67
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CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia. Arjona, F.J.; ; Schlingmann, K.P.; Lameris, A.L.L.; ; ; Regele, S.; Korenke, G.C.; Neophytou, B.; Rust, S.; et al.2014, Article / Letter to editor (Plos Genetics, vol. 10, iss. 4, (2014), article e1004267)
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Clinical and preclinical therapeutic outcome metrics for USH2A-related disease Toms, M.; Dubis, A.M.; ; Tracey-White, D.; Mitsios, A.; Hayes, M.; ; Baxendale, S.; Utoomprurkporn, N.; Bamiou, D.; et al.2020, Article / Letter to editor (Human Molecular Genetics, vol. 29, iss. 11, (2020), pp. 1882-1899)
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A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1. Thys, M.; Bogaert, K. van den; Iliadou, V.; Vanderstraeten, K.; Dieltjens, N.; Schrauwen, I.; ; Eleftheriades, N.; Grigoriadou, M.; ; et al.2007, Article / Letter to editor (European Journal of Human Genetics, vol. 15, iss. 3, (2007), pp. 362-368)
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A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome. Kalay, E.; ; Caylan, R.; ; Wollnik, B.; Karaguzel, A.; ; Erdol, H.; ; ; et al.2005, Article / Letter to editor (Journal of Molecular Medicine-Jmm, vol. 83, iss. 12, (2005), pp. 1025-1032)
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A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome Kalay, E.; ; Caylan, R.; ; Wollnik, B.; Karaguzel, A.; ; Erdol, H.; ; ; et al.2005, Article / Letter to editor (Journal of Molecular Medicine-Jmm, vol. 83, iss. 12, (2005), pp. 1025-1032)
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A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families Peelen, T.; Vliet, M. van; Petrij-Bosch, A.; Mieremet, R.; Szabo, C.I.; Ouweland, A.M.W. van den; Hogervorst, F.B.L.; Brohet, R.M.; ; Teugels, E.; et al.1997, Article / Letter to editor (American Journal of Human Genetics, vol. 60, iss. 5, (1997), pp. 1041-1049)
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A European multicenter study into age-related hearing impairment: Occupational noise, smoking and high BMI are risk factors and moderate akcohol consumption is protective. Fransen, E.; ; Topsakal, V.; Laer, L. van; Eyken, E. van; Hannula, S.; Maki Torkko, E.; Jensen, M.; Demeester, K.; ; et al.2008, Article / Letter to editor (Journal of the Association for Research in Otolaryngology, vol. 9, iss. 3, (2008), pp. 1931-1943)
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