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Issue DateTitleAuthor(s)
2015-03-17Rare variants in neuronal excitability genes influence risk for bipolar disorderAment, SA; Szelinger, S; Glusman, G; Ashworth, J; Hou, L; Akula, N; Shekhtman, T; Badner, JA; Brunkow, ME; Mauldin, DE; Stittrich, AB; Rouleau, K; Detera-Wadleigh, SD; Nurnberger, JI; Edenberg, HJ; Gershon, ES; Schork, N; Price, ND; Gelinas, R; Hood, L; Craig, D; McMahon, FJ; Kelsoe, JR; Roach, JC
2007-11Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.Chakarova, CF; Papaioannou, MG; Khanna, H; Lopez, I; Waseem, N; Shah, A; Theis, T; Friedman, J; Maubaret, C; Bujakowska, K; Veraitch, B; Abd El-Aziz, MM; Prescott, DQ; Parapuram, SK; Bickmore, WA; Munro, PMG; Gal, A; Hamel, CP; Marigo, V; Ponting, CP; Wissinger, B; Zrenner, E; Matter, K; Swaroop, A; Koenekoop, RK; Bhattacharya, SS
2014-09-04Mutations in NOTCH1 Cause Adams-Oliver SyndromeStittrich, AB; Lehman, A; Bodian, DL; Ashworth, J; Zong, Z; Li, H; Lam, P; Khromykh, A; Iyer, RK; Vockley, JG; Baveja, R; Silva, ES; Dixon, J; Leon, EL; Solomon, BD; Glusman, G; Niederhuber, JE; Roach, JC; Patel, MS
2005-12A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p.Papaioannou, M; Chakarova, CF; Prescott, DQC; Waseem, N; Theis, T; Lopez, I; Gill, B; Koenekoop, RK; Bhattacharya, SS
2018-02-22A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and SeizuresGennarino, VA; Palmer, EE; McDonell, LM; Wang, L; Adamski, CJ; Koire, A; See, L; Chen, CA; Schaaf, CP; Rosenfeld, JA; Panzer, JA; Moog, U; Hao, S; Bye, A; Kirk, EP; Stankiewicz, P; Breman, AM; McBride, A; Kandula, T; Dubbs, HA; Macintosh, R; Cardamone, M; Zhu, Y; Ying, K; Dias, KR; Cho, MT; Henderson, LB; Baskin, B; Morris, P; Tao, J; Cowley, MJ; Dinger, ME; Roscioli, T; Caluseriu, O; Suchowersky, O; Sachdev, RK; Lichtarge, O; Tang, J; Boycott, KM; Holder, JL; Zoghbi, HY
2021-07Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study.International Mismatch Repair Consortium,
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