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Showing articles 0 to 10 of 10 Filter Applied: genetic screening (Click to remove) Spinal Muscular Atrophy UpToDate, Oct, Bodamer,O.A., 2022 Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019 Range of Genetic Mutations Associated with Severe Non-Syndromic Sporadic Intellectual Disability: An Exome Sequencing Study Lancet 380:1674-1682, Rauch, A.,et al, 2012 Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability NEJM 367:1921-1929, Ligt, J.,et al, 2012 The Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale Stroke 43:2871-2876, Pescini, F.,et al, 2012 Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL) UpToDate (www.uptodate.com) Aug 21, Dichgans,M.,et al., 2007 Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population JAMA 291:460-469, Jacquemont,S.,et al, 2004 Clinical Spectrum of CADASIL:A Study of 7 Families Lancet 346:934-939, Chabriat,H.,et al, 1995 Molecular Genetic Advances in Fragile X Syndrome J Pediatr 122:169-185, Tarleton,J.C.&Saul,R.A., 1993 Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome Pediatrics 89:395-400, Hagerman,R.J.,et al, 1992 Showing articles 0 to 10 of 10