Hakutulokset - Smogavec, Mateja

Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22 Tekijä Schnabel, Franziska, Smogavec, Mateja, Funke, Rudolf, Pauli, Silke, Burfeind, Peter, Bartels, Iris

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Novel fukutin mutations in limb-girdle muscular dystrophy type 2M with childhood onset Tekijä Smogavec, Mateja, Zschüntzsch, Jana, Kress, Wolfram, Mohr, Julia, Hellen, Peter, Zoll, Barbara, Pauli, Silke, Schmidt, Jens

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Intragenic duplication of EHMT1 gene results in Kleefstra syndrome Tekijä Schwaibold, Eva Maria Christina, Smogavec, Mateja, Hobbiebrunken, Elke, Winter, Lorenz, Zoll, Barbara, Burfeind, Peter, Brockmann, Knut, Pauli, Silke

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Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype–phenotype correlations Tekijä Smogavec, Mateja, Gerykova Bujalkova, Maria, Lehner, Reinhard, Neesen, Jürgen, Behunova, Jana, Yerlikaya-Schatten, Gülen, Reischer, Theresa, Altmann, Reinhard, Weis, Denisa, Duba, Hans-Christoph, Laccone, Franco

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Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring Tekijä Nagy, Dóra, Verheyen, Sarah, Wigby, Kristen M., Borovikov, Artem, Sharkov, Artem, Slegesky, Valerie, Larson, Austin, Fagerberg, Christina, Brasch-Andersen, Charlotte, Kibæk, Maria, Bader, Ingrid, Hernan, Rebecca, High, Frances A., Chung, Wendy K., Schieving, Jolanda H., Behunova, Jana, Smogavec, Mateja, Laccone, Franco, Witsch-Baumgartner, Martina, Zobel, Joachim, Duba, Hans-Christoph, Weis, Denisa

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Gene panel testing of 5589 BRCA1/2‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Ca... Tekijä Hauke, Jan, Horvath, Judit, Groß, Eva, Gehrig, Andrea, Honisch, Ellen, Hackmann, Karl, Schmidt, Gunnar, Arnold, Norbert, Faust, Ulrike, Sutter, Christian, Hentschel, Julia, Wang‐Gohrke, Shan, Smogavec, Mateja, Weber, Bernhard H. F., Weber‐Lassalle, Nana, Weber‐Lassalle, Konstantin, Borde, Julika, Ernst, Corinna, Altmüller, Janine, Volk, Alexander E., Thiele, Holger, Hübbel, Verena, Nürnberg, Peter, Keupp, Katharina, Versmold, Beatrix, Pohl, Esther, Kubisch, Christian, Grill, Sabine, Paul, Victoria, Herold, Natalie, Lichey, Nadine, Rhiem, Kerstin, Ditsch, Nina, Ruckert, Christian, Wappenschmidt, Barbara, Auber, Bernd, Rump, Andreas, Niederacher, Dieter, Haaf, Thomas, Ramser, Juliane, Dworniczak, Bernd, Engel, Christoph, Meindl, Alfons, Schmutzler, Rita K., Hahnen, Eric

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