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Results 21-30 of 347 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2013High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohortMitchell, G.; Ballinger, M.; Wong, S.; Hewitt, C.; James, P.; Young, M.; Cipponi, A.; Pang, T.; Goode, D.; Dobrovic, A.; Thomas, D.; Porceddu, S.; Gattas, M.; Neuhaus, S.; Suthers, G.; Tattersall, M.; Tucker, K.; Lewis, C.; Carey-Smith, R.; Toft, M.
2013Congenital bipartite scaphoidChang, A.C.; Leonello, D.T.; Webb, J.M.
2013Reflex tachycardia with airway opening in obstructive sleep apnea: Commentary on Azarbarzin et al. Contribution of arousal from sleep to post-event tachycardia in patients with obstructive sleep apnea. SLEEP 2013;36:881-889Catcheside, P.G.; Jordan, A.S.
2013Exome sequencing reveals a novel partial deletion in the progranulin gene causing primary progressive aphasiaRohrer, J.D.; Beck, J.; Plagnol, V.; Gordon, E.; Lashley, T.; Revesz, T.; Janssen, J.C.; Fox, N.C.; Warren, J.D.; Rossor, M.N.; Mead, S.; Schott, J.M.
2013The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphismKlebe, S.; Golmard, J.-L.; Nalls, M.A.; Saad, M.; Singleton, A.B.; Bras, J.M.; Hardy, J.; Simon-Sanchez, J.; Heutink, P.; Kuhlenbaeumer, G.; Charfi, R.; Klein, C.; Hagenah, J.; Gasser, T.; Wurster, I.; Lesage, S.; Lorenz, D.; Deuschl, G.; Durif, F.; Pollak, P.; et al.
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.
2013A pilgrim's progress: severe Rickettsia conorii infection complicated by gangrenePunj, P.; Nelson, R.; Gardiner, S.; Lodge, M.; Graves, S.; Warner, M.
2013The effect of the season of birth and of selected maternal factors on linear enamel thickness in modern human deciduous incisorsZa̧dzińska, E.; Kurek, M.; Borowska-Strugińska, B.; Lorkiewicz, W.; Rosset, I.; Sitek, A.
2013Bed sharing deaths in infancy - SIDS or asphyxia?Byard, R.W.

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