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Showing articles 0 to 10 of 10 Filter Applied: gene (Click to remove) An unusual cause of stroke and hypoxia BMJ 342:c7200, Bell, S.L. & Eveson, D.J., 2011 Hereditary Hemorrhagic Telangiectasia NEJM 333:918-924, Guttmacher,A.E.,et al, 1995 Cavernous Maliformations of the Central Nervous System NEJM 390:1022-1028, Smith,E.R., 2024 Neuroimaging Features of Biotinidase Deficiency AJNR 44:328-333, Biswas,A.,et al, 2023 Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019 Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability NEJM 367:1921-1929, Ligt, J.,et al, 2012 Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene Brain 129:1674-1684, Horvath, R.,et al, 2006 Sensorineural Hearing Loss in Children Lancet 365:879-890, Smith, R.J.H.,et al, 2005 Association of Multidrug Resistance in Epilepsy with a Polymorphism in the Drug-Transporter Gene ABCB1 NEJM 348:1442-1448,1480, Siddiqui,A.,et al, 2003 Spinocerebellar Ataxias and Ataxins NEJM 333:1351-1353, Rosenberg,R.N., 1995 Showing articles 0 to 10 of 10