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

by Matthias Türk, Armin M. Nagel, Frank Roemer, Ursula Schlötzer-Schrehardt, Christian T. Thiel, Martin Winterholler, Rolf Schröder
Published 2019-11-01

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

by Moritz Hebebrand, Ulrike Hüffmeier, Regina Trollmann, Ute Hehr, Steffen Uebe, Arif B. Ekici, Cornelia Kraus, Mandy Krumbiegel, André Reis, Christian T. Thiel, Bernt Popp
Published 2019-02-01

Rare copy number variants are a common cause of short stature.

by Diana Zahnleiter, Steffen Uebe, Arif B Ekici, Juliane Hoyer, Antje Wiesener, Dagmar Wieczorek, Erdmute Kunstmann, André Reis, Helmuth-Guenther Doerr, Anita Rauch, Christian T Thiel
Published 2013-01-01

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

by Juliane Hoyer, Georgia Vasileiou, Steffen Uebe, Marius Wunderle, Cornelia Kraus, Peter A. Fasching, Christian T. Thiel, Arndt Hartmann, Matthias W. Beckmann, Michael P. Lux, André Reis
Published 2018-09-01

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.

by Dov Tiosano, Hagit N Baris, Anlu Chen, Marrit M Hitzert, Markus Schueler, Federico Gulluni, Antje Wiesener, Antonio Bergua, Adi Mory, Brett Copeland, Joseph G Gleeson, Patrick Rump, Hester van Meer, Deborah A Sival, Volker Haucke, Josh Kriwinsky, Karl X Knaup, André Reis, Nadine N Hauer, Emilio Hirsch, Ronald Roepman, Rolph Pfundt, Christian T Thiel, Michael S Wiesener, Mariam G Aslanyan, David A Buchner
Published 2019-04-01