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PreviewIssue DateTitleAuthor(s)
2013A novel prion disease associated with diarrhea and autonomic neuropathyMead, S.; Gandhi, S.; Beck, J.; Caine, D.; Gallujipali, D.; Carswell, C.; Hyare, H.; Joiner, S.; Ayling, H.; Lashley, T.; Linehan, J.M.; Al-Doujaily, H.; Sharps, B.; Revesz, T.; Sandberg, M.K.; Reilly, M.M.; Koltzenburg, M.; Forbes, A.; Rudge, P.; Brandner, S.; et al.
2013Migalastat HCl reduces globotriaosylsphingosine (Lyso-Gb3) in fabry transgenic mice and in the plasma of fabry patientsYoung-Gqamana, B.; Brignol, N.; Chang, H.; Khanna, R.; Soska, R.; Fuller, M.; Sitaraman, S.; Germain, D.; Giugliani, R.; Hughes, D.; Mehta, A.; Nicholls, K.; Boudes, P.; Lockhart, D.; Valenzano, K.; Benjamin, E.; Schiffmann, R.
2013The genomic landscape of hypodiploid acute lymphoblastic leukemiaTo, L.
2013Identification Of KLHL41 mutations implicates BTB-Kelch-Mediated Ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathyGupta, V.; Ravenscroft, G.; Shaheen, R.; Todd, E.; Swanson, L.; Shiina, M.; Ogata, K.; Hsu, C.; Clarke, N.; Darras, B.; Farrar, M.; Hashem, A.; Manton, N.; Muntoni, F.; North, K.; Sandaradura, S.; Nishino, I.; Hayashi, Y.; Sewry, C.; Thompson, E.; et al.
2013H-NS plays a role in expression of Acinetobacter baumannii virulence featuresEijkelkamp, B.; Stroeher, U.; Hassan, K.; Elbourne, L.; Paulsen, I.; Brown, M.; Payne, S.M.
2013ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticityHirata, H.; McMichael, G.; Haan, E.; MacLennan, A.; Yap, T.; Nguyen, L.; Shaw, M.; Gecz, J.
2013Characterization of mutants of a highly cross-reactive calcium-binding protein from Brassica pollen for allergen-specific immunotherapyGarmatiuk, T.; Swoboda, I.; Twardosz-Kropfmüller, A.; Dall’Antonia, F.; Keller, W.; Singh, M.B.; Bhalla, P.L.; Okada, T.; Toriyama, K.; Weber, M.; Ghannadan, M.; Sperr, W.R.; Blatt, K.; Valent, P.; Klein, B.; Niederberger, V.; Curin, M.; Balic, N.; Spitzauer, S.; Valenta, R.
2013RBM5 is a male germ cell splicing factor and is required for spermatid differentiation and male fertilityO'Bryan, M.; Clark, B.; McLaughlin, E.; D'Sylva, R.; O'Donnell, L.; Wilce, J.; Sutherland, J.; O'Connor, A.; Whittle, B.; Goodnow, C.; Ormandy, C.; Jamsai, D.; Barsh, G.
2013Mutations in DEPDC5 cause familial focal epilepsy with variable fociDibbens, L.; de Vries, B.; Donatello, S.; Heron, S.; Hodgson, B.; Chintawar, S.; Crompton, D.; Hughes, J.; Bellows, S.; Klein, K.; Callenbach, P.; Corbett, M.; Gardner, A.; Kivity, S.; Iona, X.; Regan, B.; Weller, C.; Crimmins, D.; O'Brien, T.; Guerrero-Lopez, R.; et al.

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