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Showing articles 0 to 9 of 9 Filter Applied: chromosomal abnormality (Click to remove) Huntington Disease: Clinical Features and Diagnosis UptoDate Dec 2017, Oksana Suchowersky, 2017 Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder Brain 133:655-670, Leen,W.G., et al, 2010 Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency Neurol 60:1413-1417, Pearl,P.L.,et al, 2003 Diagnosis of Merosin (Laminin-2) Deficient Congenital Muscular Dystrophy by Skin Biopsy Lancet 347:582-584, Sewry,C.A.,et al, 1996 Causal Heterogeneity in Isolated Lissencephaly Neurol 42:1375-1388, Dobyns,W.B.,et al, 1992 Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis Medicine 70:99-117, Gatti,R.A.,et al, 1991 Fucosidosis Revisited:A Review of 77 Patients Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991 Physical Features of Prader-Willi Syndrome in Neonates Am J Dis Child 144:1251-1254, Aughton,D.J.&Cassidy,S.B., 1990 The Lissencephaly, (Agyria) Syndrome in Siblings Arch Neurol 35:608-611, Garcia,C.A.,et al, 1978 Showing articles 0 to 9 of 9