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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 6-Year-Old Girl with Progressive Toe Walking
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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Chediak-Higashi Syndrome: Pathognomonic Feature
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Congential Deficienty of Factor VII in Subarachnoid Hemorrhage
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Familial Intracranial Haemorrhage Due to Factor V Deficiency
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Hematologic Disorders and Ischemic Stroke
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Amaurotic Family Idiocy
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Childhood Stroke Associated with Protein C or S Deficiency
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Mendelian Etiologies of Stroke
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MELAS Syndrome Involving a Mother & Two Children
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Progressive Myoclonus Epilepsies:Specific Causes & Diagnosis
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Cerebral Haemorrhagic Infarction in Young Patients with Hereditary Protein C Deficiency
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
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Chronic Progressive External Ophthalmoplegia (CPEO) :Clinical, Morphologic, & Biochemical Studies
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Peripheral Neuropathy in the Cherry-Red Spot-Myoclonus Syndrome (Sialidosis Type I)
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A Familial Mitochondrial Myopathy With Central Defect in Neural Transmission
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The Cherry-red Spot-Myoclonus Syndrome
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Neurological Manifestations of Hereditary Hemorrhagic Telangiectasia (Rendu-Osler-Weber Disease)
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Systemic Membrane Defect in the Proximal Muscular Dystrophies
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Neurologic Aspects of Hereditary Hemorrhagic Telangiectasia
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Juvenile Diabetes Mellitus & Optic Atrophy
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Nerve-Growth Factor in Familial Dysautonomia
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