Suchergebnisse - Thiel, Christian T.

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

von Hebebrand, Moritz, Hüffmeier, Ulrike, Trollmann, Regina, Hehr, Ute, Uebe, Steffen, Ekici, Arif B., Kraus, Cornelia, Krumbiegel, Mandy, Reis, André, Thiel, Christian T., Popp, Bernt

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Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy

von Winter, Lilli, Türk, Matthias, Harter, Patrick N., Mittelbronn, Michel, Kornblum, Cornelia, Norwood, Fiona, Jungbluth, Heinz, Thiel, Christian T., Schlötzer-Schrehardt, Ursula, Schröder, Rolf

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The clinical significance of small copy number variants in neurodevelopmental disorders

von Asadollahi, Reza, Oneda, Beatrice, Joset, Pascal, Azzarello-Burri, Silvia, Bartholdi, Deborah, Steindl, Katharina, Vincent, Marie, Cobilanschi, Joana, Sticht, Heinrich, Baldinger, Rosa, Reissmann, Regina, Sudholt, Irene, Thiel, Christian T., Ekici, Arif B., Reis, Andre, Bijlsma, Emilia K., Andrieux, Joris, Dieux, Anne, Fitzpatrick, David, Ritter, Susanne, Baumer, Alessandra, Latal, Beatrice, Plecko, Barbara, Jenni, Oskar G., Rauch, Anita

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Camptocormia as the presenting symptom in sporadic late onset nemaline myopathy: a case report

von Türk, Matthias, Nagel, Armin A., Roemer, Frank, Schlötzer-Schrehardt, Ursula, Thiel, Christian T., Winterholler, Martin, Schröder, Rolf

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Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria

von Hoyer, Juliane, Vasileiou, Georgia, Uebe, Steffen, Wunderle, Marius, Kraus, Cornelia, Fasching, Peter A., Thiel, Christian T., Hartmann, Arndt, Beckmann, Matthias W., Lux, Michael P., Reis, André

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