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Showing articles 0 to 12 of 12 Filter Applied: facial appearance,abnormal (Click to remove) Cockayne Syndrome: Review of 140 Cases Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992 Prader-Willi and Angelman Syndromes Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998 Myotonic Dystrophy In Myology, Engel & Franzini-Armstrong, McGraw-Hill, Inc, New York V2, Ch 43, P1192, Harper,P.S.&Rudel,R., 1994 The Spectrum of Fragile X Disorders NEJM 393:281-288, Hagerman,R.H. & Hagerman,P.J., 2025 Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement AJNR 40:903-907, Hartin, I.,et al, 2019 The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification Neurol 87:e56-e57, Saini, A.G.,et al, 2016 Facial Bradykinesia JNNP 84:681-685, Bologna, M.,et al, 2013 Erroneous Diagnosis Corrected After 28 Years Arch Neurol 53:1194-1196, Gordon,P.H.,et al, 1996 Perinatal Brain Injury in Premature Infants Born to Mothers Using Alcohol in Pregnancy Pediatrics 95:66-73, Holzman,C.,et al, 1995 Angelman Syndrome: Clinical Profile J Child Neurol 7:270-280, Zori,R.T.,et al, 1992 A Clinical Study of Noonan Syndrome Arch Dis Child 67:178-183, Sharland, M.,et al, 1992 Fucosidosis Revisited:A Review of 77 Patients Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991 Showing articles 0 to 12 of 12