Enter your terms above and click the 'Search' button.

Showing articles 0 to 13 of 13 Filter Applied: gene (Click to remove) Cavernous Maliformations of the Central Nervous System NEJM 390:1022-1028, Smith,E.R., 2024 An unusual cause of stroke and hypoxia BMJ 342:c7200, Bell, S.L. & Eveson, D.J., 2011 Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy NEJM 362:1181-1191, Lupski,J.R., et al, 2010 Spinal Muscular Atrophy Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008 Neurofibromatosis JAMA 300:352, Torpy,J.M.,et al., 2008 Variable Presentation of Brugada Syndrome: Lessons from Three Generations with Syncope BMJ 326:1078-1079, Plunkett,A.,et al, 2003 Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene NEJM 342:770-780, Dalakas,M.C.,et al, 2000 The Diagnostic Evaluation & Multidisciplinary Management of Neurofibromatosis 1 and Neurofibromatosis 2 JAMA 278:51-57, Gutmann,D.H.,et al, 1997 Hereditary Hemorrhagic Telangiectasia NEJM 333:918-924, Guttmacher,A.E.,et al, 1995 Neurofibromatosis 2 (Bilateral Acoustic Neurofibromatosis) An Update Ann Int Med 113:39-52, Mulvihill,J.J.,et al, 1990 Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis) NEJM 318:684-688, Martuza,R.L.&Eldridge,R., 1988 Neurofibromatosis Conference Statement, National Institutes of Health Consensus Development Conference, Arch Neurol 45, 57578,1988., 1988 Neurofibromatosis Editorial, Lancet 1:663-6641987., , 1987 Showing articles 0 to 13 of 13