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Multivessel Cerebral Occlusion in Noonan Syndrome
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Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024
Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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More Than a Little Unsteady
NEJM 387:e9, Kraft, A.W.,et al, 2022
Recurrent Cerebral Ischemia During Pregnancies
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A Teenager with Persistent Headache
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NEJM 370:911-920, Zhou, Q.,et al, 2014
Red Papules on the Tongue of a Patient with Hemiparesis
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Genetic Aspects of Alzheimer Disease
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NEJM 360:1656-1665, Case 12-2009, 2009
Leukodystrophies: Classification, Diagnosis, and Treatment
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Familiality in Brain Tumors
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Neurologic Manifestations of von Hippel-Lindau Disease
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Primary Brain Tumours in Adults
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Hypertrophic Cardiomyopathy A Systematic Review
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Is Patent Foramen Ovale a Family Trait?
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Recommendations for the Management of Patients with Unruptured Intracranial Aneurysms
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De Novo Mutation in the Notch3 Gene Causing CADASIL
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Bicuspid Aortic Valve - A Silent Danger: Analysis of 50 Cases of Infective Endocarditis
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Cerebroretinal Vasculopathy Mimicking a Brain Tumor:A Case of a Rare Hereditary Syndrome
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Inclusion Body Myositis and Myopathies
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Progress in the Genetics of Cerebrovascular Disease Inherited Subcortical Arteriopathies
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Turcot's Syndrome:Evidence for Linkage to the Adenomatous Polyposis Coli (APC) Locus
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A Familial Disorder with Subcortical Ischemic Strokes, Dementia, and Leukoencephalopathy
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Central Nervous System Lesions in von Hippel-Lindau Syndrome
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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