Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita von Ekhilevitch, N., Kurolap, A., Oz-Levi, D., Mory, A., Hershkovitz, T., Ast, G., Mandel, H., Baris, H.N.

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The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis-like phenotype and early onset cancer von Levi, Z., Kariv, R., Barnes-Kedar, I., Goldberg, Y., Half, E., Morgentern, S., Eli, B., Baris, H.N., Vilkin, A., Belfer, R.G., Niv, Y., Elhasid, R., Dvir, R., Abu-Freha, N., Cohen, S.

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Genetic features of Lynch syndrome in the Israeli population von Goldberg, Y., Barnes-Kedar, I., Lerer, I., Halpern, N., Plesser, M., Hubert, A., Kadouri, L., Goldshmidt, H., Solar, I., Strul, H., Rosner, G., Baris, H.N., Peretz, T., Levi, Z., Kariv, R.

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A novel GJB6 missense mutation in hidrotic ectodermal dysplasia 2 (Clouston syndrome) broadens its genotypic basis von Baris, H.N., Zlotogorski, A., Peretz-Amit, G., Doviner, V., Shohat, M., Reznik-Wolf, H., Pras, E.

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No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency von Tesch, V.K., IJspeert, H., Raicht, A., Rueda, D., Dominguez-Pinilla, N., Allende, L.M., Colas, C., Rosenbaum, T., Ilencikova, D., Baris, H.N., Nathrath, M.H.M., Suerink, M., Januszkiewicz-Lewandowska, D., Ragab, I., Azizi, A.A., Wenzel, S.S., Zschocke, J., Schwinger, W., Kloor, M., Blattmann, C., Brugieres, L., Burg, M. van der, Wimmer, K., Seidel, M.G.

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Comparative evaluation of coronary disease burden: bicuspid valve disease is not atheroprotective von Dolmaci, Onur Baris, Driessen, Antoine H G, Klautz, Robert J M, Poelmann, Robert, Lindeman, Jan H N, Grewal, Nimrat

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