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Author (up) Title Year Publication Volume Pages
Burnett, L.C.; LeDuc, C.A.; Sulsona, C.R.; Paull, D.; Rausch, R.; Eddiry, S.; Carli, J.F.M.; Morabito, M.V.; Skowronski, A.A.; Hubner, G.; Zimmer, M.; Wang, L.; Day, R.; Levy, B.; Fennoy, I.; Dubern, B.; Poitou, C.; Clement, K.; Butler, M.G.; Rosenbaum, M.; Salles, J.P.; Tauber, M.; Driscoll, D.J.; Egli, D.; Leibel, R.L. Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome 2017 The Journal of Clinical Investigation 127 293-305
Kueppers, F.; Sanders, C. State-of-the-art testing for alpha-1 antitrypsin deficiency 2017 Allergy and Asthma Proceedings 38 108-114
Lacovich, V.; Espindola, S.L.; Alloatti, M.; Pozo Devoto, V.; Cromberg, L.E.; Carna, M.E.; Forte, G.; Gallo, J.-M.; Bruno, L.; Stokin, G.B.; Avale, M.E.; Falzone, T.L. Tau Isoforms Imbalance Impairs the Axonal Transport of the Amyloid Precursor Protein in Human Neurons 2017 The Journal of Neuroscience : the Official Journal of the Society for Neuroscience 37 58-69
Li, M.; Zhao, H.; Ananiev, G.E.; Musser, M.T.; Ness, K.H.; Maglaque, D.L.; Saha, K.; Bhattacharyya, A.; Zhao, X. Establishment of Reporter Lines for Detecting Fragile X Mental Retardation (FMR1) Gene Reactivation in Human Neural Cells 2017 Stem Cells (Dayton, Ohio) 35 158-169
Polex-Wolf, J.; Yeo, G.S.H.; O'Rahilly, S. Impaired prohormone processing: a grand unified theory for features of Prader-Willi syndrome? 2017 The Journal of Clinical Investigation 127 98-99