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Von Recklinghausen Neurofibromatosis
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
NEJM 376:972-980, Case 7-2017, 2017
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
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Efficacy and Safety of Everolimus for Subependymal Giant Cell Astrocytomas Associated with Tuberous Sclerosis Complex (EXIST-1): A Multicenter, Randomized, Placebo-Controlled Phase 3 Trial
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Neurofibromatosis Type 2
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The Tuberous Sclerosis Complex
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Malignant Hyperthermia, Update on Susceptibility Testing
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Cerebroretinal Vasculopathy Mimicking a Brain Tumor:A Case of a Rare Hereditary Syndrome
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Ion Channels and Neurological Disease:DNA Based Diagnosis is Now Possible,and Ion Channels May be Important in Common Paroxysmal Disorders
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Stroke in Williams Syndrome
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Congential Deficienty of Factor VII in Subarachnoid Hemorrhage
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Turcot's Syndrome:Evidence for Linkage to the Adenomatous Polyposis Coli (APC) Locus
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The Nondystrophic Myotonias
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Acquired Ocular Visual Impairment in Children, 1960-1989
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Molecular Genetics in Neurology
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Fatal Familial Insomnia:Clinical and Pathologic Study of Five New Cases
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Familial Intracranial Haemorrhage Due to Factor V Deficiency
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New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
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Detecting Susceptibility to Malignant Hyperthermia
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Central Nervous System Involvement in Von Hippel-Lindau Disease
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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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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Neurofibromatosis 2 (Bilateral Acoustic Neurofibromatosis) An Update
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Hematologic Disorders and Ischemic Stroke
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Neurofibromatosis and Other Disorders Among Children with CNS Tumors and Their Families
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The Diagnosis of Neurofibromatosis-1 in the Child Under the Age of 6 Years
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
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Livedo Reticularis, Porcelain-White Scars, and Cerebral Thromboses
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Neurofibromatosis 2:Clinical & DNA Linkage Studies of a Large Kindred
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Central Core Disease, Clinical Features in 13 Patients
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The Malignant Hyperthermia Syndrome
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Sclerosteosis:Neurogenetic & Pathophysiologic Analysis of an American Kinship
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Two Cases of Van Buchem's Disease
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Pathogenesis of Pseudotumor Cerebri Syndromes
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A Family Affected with Intestinal Polyposis & Gliomas
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Studies in Aging of the Brain:IV. Familial Alzheimer Dis. :Relat. to Transmiss. Demetia, Aneuploidy, & Microtubular Defects
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Malignant Hyperthermia & Central Core Disease in a Child with Congenital Dislocating Hips
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Pseudoxanthoma Elasticum:A Review of Neurological Complications
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Neurological Manifestations of Fabry Disease in Female Carriers
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Neuroectodermal Tumors in the Cerebellum in Two Sisters
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Pathology of Malignant Hyperpyrexia
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