A Clinical Study of Noonan Syndrome
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Sclerosteosis:Neurogenetic & Pathophysiologic Analysis of an American Kinship
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A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
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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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Angelman Syndrome Revisited
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Prenatal Exposure to Antiepileptic Drugs
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Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
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The Exercise Test in Andersen Syndrome
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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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Mapping of Hereditary Neuralgic Amyotrophy (Familial Brachial Plexus Neuropathy) to Distal Chromosome 17q
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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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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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Congenital Brain Anomalies Associated with the Hypoplastic Left Heart Syndrome
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Prenatal Prediction of Risk of the Fetal Hydantoin Syndrome
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Physical Features of Prader-Willi Syndrome in Neonates
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Minor Anomalies in Offspring of Epileptic Mothers
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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
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The Cerebrohepatorenal (Zellweger) Syndrome
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Dominant Chondrodysplasia Punctata with Neurologic Symptoms
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Clinicopathological Conference
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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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Familiar Basilar Impression
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Osteogenesis Imperfecta, in Heritable Disorders of Connective Tissue
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The Cornelia de Lange Syndrome
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