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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
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
Turner, C., Brice, A., Bushby, K., Riess, O., Hanna, M., van Ommen, G., Muntoni, F., Klockgether, T., Wirth, B., Lochmueller, H., Timmerman, V., Schoells, L., Straub, V. and Tabrizi, S. (2015). NeurOmics: EU-funded-omics research for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases. Neuromusc. Disord., 25. S. S298 - 2. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364