Search Results - Thiel, Christian T.

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

by 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

by 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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The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

by 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

by 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

by 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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