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Journal Article
Ebner, K., Stahlhut, L., Mueller-Albrecht, M., Emmel, M., Doetsch, J., Vierzig, A., Heller, R. and Eifinger, F. (2018). Cardiac arrhythmia in an obese boy. Mon.schr. Kinderheilkd., 166 (9). S. 802 - 808. NEW YORK: SPRINGER. ISSN 1433-0474
Gualandi, F., Italyankina, E., Storbeck, M., Vezyroglou, K., Heller, R., Scotton, C., Di Raimo, F., Mauro, A., Tugnoli, V, Timmerman, V, Wirth, B., De Grandis, D. and Ferlini, A. (2016). CLINICAL NEXT GENERATION SEQUENCING GENE PANEL IDENTIFIED A NOVEL ATP7A MUTATION IN TWO BROTHERS WITH DISTAL HEREDITARY MOTOR NEUROPATHY AND AUTONOMIC DYSFUNCTION. J. Peripher. Nerv. Syst., 21 (3). S. 262 - 263. HOBOKEN: WILEY-BLACKWELL. ISSN 1529-8027
Heller, R. and Hoffmann, K. (2013). Genetic diagnosis and counseling in arthrogryposis. Med. Genet., 25 (3). S. 358 - 365. NEW YORK: SPRINGER. ISSN 1863-5490
Karakaya, M., Kunde, V., Heller, R., Nuernberg, P. and Cirak, S. (2015). WES revealed a de-novo missense mutation in the NALCN gene in a Freeman-Sheldon-(DA2A) like syndrome with CNS involvement. Neuromusc. Disord., 25. S. S277 - 1. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364
Neri, M., Selvatici, R., Scotton, C., Storbeck, M., Vezyroglou, K., Heller, R., Tugnoli, V., Bigoni, S., Timmerman, V., Wirth, B., De, D., Gualandi, F. and Ferlini, A. (2017). Clinical gene panel in UNIFE patients orphans of genetic diagnosis. Neuromusc. Disord., 27. S. S195 - 1. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364
Neuhaus, C., Lang-Roth, R., Zimmermann, U., Heller, R., Eisenberger, T., Weikert, M., Markus, S., Knipper, M. and Bolz, H. J. (2017). Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1). Clin. Genet., 91 (6). S. 892 - 902. HOBOKEN: WILEY. ISSN 1399-0004
Scotton, C., Italyankina, E., Storbeck, M., Vezyroglou, K., Heller, R., Neri, M., Di Raimo, F., Mauro, A., Tugnoli, V., Timmerman, V., Wirth, B., De Grandis, D., Gualandi, F. and Ferlini, A. (2015). Next generation sequencing identifies a novel ATP7A mutation in two brothers with distal hereditary motor neuropathy and autonomic dysfunction. Neuromusc. Disord., 25. S. S224 - 2. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364
Trippe, H., Munteanu, M., Stehling, F., Mellies, U., Vincent, A., Schneider-Gold, C., Heller, R. and Schara, U. (2012). Myasthenic symptoms: From initial presentation to diagnosis. Neuromusc. Disord., 22 (9-10). S. 856 - 857. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 0960-8966