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The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Molybdenum Cofactor Deficiency
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The Acquired Metabolic Disorders of the Nervous System, Cretinism and Neonatal Myxedema
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Angelman Syndrome Revisited
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Prader-Willi and Angelman Syndromes
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Follow-up of Nine Patients with Hurler Syndrome After Bone Marrow Transplantation
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The Epilepsy of Trisomy 9p
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Fetal Alcohol Syndrome and Fetal Alcohol Effects
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Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
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Angelman Syndrome: Clinical Profile
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A Clinical Study of Noonan Syndrome
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Fetal Alcohol Syndrome in Adolescents and Adults
JAMA 265:1961-1967, Streissguth,A.P.,et al, 1991
MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
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Fucosidosis Revisited:A Review of 77 Patients
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Hunter Disease (Mucopolysaccharidosis Type II) in a Karyotypically Normal Girl
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The Peroxisome:Nervous System Role of a Previously Underrated Organelle, The 1987 Robert Wartenberg Lecture
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Neurological Findings in Patients with the Fragile-X Syndrome
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Natural History of the Fetal Alcohol Syndrome:A 10-Year Follow-Up of Eleven Patients
Lancet 2:85-91, Streissguth,A.P.,et al, 1985
Coffin-Siris Syndrome, Neuropathologic Findings
Arch Neurol 42:350-353, DeBassio,W.A.,et al, 1985
Fragile X Syndrome:Associated Neurological Abnormalities & Developmental Disabilities
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The Cerebrohepatorenal (Zellweger) Syndrome
NEJM 310:1141-1146, Moser,A.E.,et al, 1984
Fragile X Chromosome & X-Linked Mental Retardation
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Cockayne Syndrome:Unusual Neuropathological Findings & Review of the Literature
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Globoid cells, Glial nodules, & Peculiar Fibrillary Changes in the cerebro-hepato-renal Syndrome of Zellweger
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The Cornelia de Lange Syndrome
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