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Facial Nerve is Liable to Pressure Palsy
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Cockayne Syndrome: Review of 140 Cases
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Fucosidosis Revisited:A Review of 77 Patients
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A 15-year-old Boy with Bilateral Wrist Pain in the Setting of Weight Loss
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Ipsilateral Stroke in a Patient with Horizontal Gaze Palsy with Progressive Scoliosis and a Subcortical Infarct
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Neurofibromatosis Type 2
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Neurologic Manifestations of von Hippel-Lindau Disease
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
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Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Creutzfeldt-Jakob Disease in a Young Woman
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Phenotypic Heterogen in Hered Neurop with Liability to Press Palsies Assoc with Chromosome 17p11. 2-12 Delet
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The Epilepsy of Trisomy 9p
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Clin Electrophy & Molec Correl in 13 Families with Hered Neurop with Liabil to Press Palsies & Chromosome 17p11. 2 Deletion
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DNA Analysis in Finnish Patients with Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
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Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
Pediatrics 89:395-400, Hagerman,R.J.,et al, 1992
Wilson Disease
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Angelman Syndrome: Clinical Profile
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Physical Features of Prader-Willi Syndrome in Neonates
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
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Neurological Findings in Patients with the Fragile-X Syndrome
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Colpocephaly:Clinical, Radiologic, & Pathogenetic Aspects
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Agenesis of the Corpus Callosum:A Study of the Frequency of Associated Malformations
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The Cornelia de Lange Syndrome
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