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von Hippel-Lindau Disease
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Central Nervous System Lesions in von Hippel-Lindau Syndrome
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Clinicopath Conf
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Renal Cell Carcinoma in von Hippel-Lindau Syndrome
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Von Hippel-Lindau Disease in an Adolescent
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Clinical pathological conference
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Supratentorial Leptomeningeal Hemangioblastoma
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Focusing on the Eye Signs of Alport Syndrome in a 40-Year-Old Man Who Previously Had a Kidney Transplant and Hearing Loss
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A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
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Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
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Screening for Intracranial Aneurysms in ADPKD: A More Accurate Risk Assignment Model Is Needed
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Brain Magnetic Resonance Imaging in Patients with Cowden Syndrome
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Inclusion Body Myositis and Myopathies
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Turcot's Syndrome:Evidence for Linkage to the Adenomatous Polyposis Coli (APC) Locus
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New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
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Wilson Disease
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Brief Report:Autosomal Dominant Familial Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Clinical & Laboratory Findings in the Oculocerebrorenal Syndrome of Lowe, with Special Ref to Growth & Renal Function
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Intracranial Hemorrhage in Patients with Polycystic Kidney Disease
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Neurofibromatosis Type I in Children
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Anderson-Fabry Disease
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Neurofibromatosis and Other Disorders Among Children with CNS Tumors and Their Families
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Cardioembolic Stroke in Primary Oxalosis with Cardiac Involvement
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Phosphorylase Deficiency
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Ataxia-Telangiectasia:A Multisystem Hereditary Disease with Immunodeficiency
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Nevoid Basal Cell Carcinoma Syndrome & Epilepsy
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Von Recklinghausen Neurofibromatosis
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A Family Affected with Intestinal Polyposis & Gliomas
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Multiple Endocrine Neoplasia, Type 2b:Phenotype Recognition; Neurological Features & Their Pathological Basis
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Clinical Syndromes of Myasthenia in Infancy & Childhood
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Familial Neuromuscular Disease with Type 1 Fiber Hypoplasia, Tubular Aggregates, Cardiomyopathy, & Myasthenic Features
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Neurological Manifestations of Fabry Disease in Female Carriers
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Globoid cells, Glial nodules, & Peculiar Fibrillary Changes in the cerebro-hepato-renal Syndrome of Zellweger
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Cause of Weakness in Myasthenia Gravis
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Angiokeratoma Corporis Diffusum
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