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Kueppers, F.; Sanders, C. State-of-the-art testing for alpha-1 antitrypsin deficiency 2017 Allergy and Asthma Proceedings 38 108-114 details   doi
Vershkov, D.; Benvenisty, N. Human pluripotent stem cells in modeling human disorders: the case of fragile X syndrome 2017 Regenerative Medicine 12 53-68 details   doi
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 details   doi
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 details   doi
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 details   doi
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