Mendelian Etiologies of Stroke
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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
A 14-Year-Old Girl with Headache, Seizures, and Confusion
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A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
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Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019
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
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014
LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
Disease Models & Mechanisms 4:562-568, Lu,J.T., et al, 2011
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
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Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
NEJM 354:2584-2592, Case 18-2006, 2006
Familial Leptomeningeal Amyloidosis With a Transthyretin Variant Asp18Gly Representing Repeated Subarachnoid Haemorrhages With Superficial Siderosis
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Primary Brain Tumours in Adults
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Detection of a Varient Protein in Hair:New Diagnostic Method in Portuguese Type Familial Amyloid Polyneuropathy
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Hereditary Form of Parkinsonism-Dementia
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Is There a Familial Carpal Tunnel Syndrome? An Evaluation and Literature Review
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CT and MR Findings of Neuroacanthocytosis
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Familial Intracranial Haemorrhage Due to Factor V Deficiency
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Brain Tumors
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Erythromelalgia:Review of Clinical Characteristics and Pathophysiology
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Familial Oculoleptomeningeal Amyloidosis, Report of a New Family with Unusual Features
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Multiple Sclerosis & Systemic Lupus Erythematosus, Occurrence in Two Generations of the Same Family
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Famillial Carpal Tunnel Syndrome
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