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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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Thyrotoxic Periodic Paralysis
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Mitochondrial DNA Polymerase-y and Human Disease
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Malignant Hyperthermia, Update on Susceptibility Testing
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Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
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Hypertrophic Cardiomyopathy A Systematic Review
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Reduced Penetrance,Variable Expressivity,and Genetic Heterogeneity of Familial Atrial Septal Defects
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Brief Report:Deficiency of a Dystrophin-Assoc Glycoprotein (Adhalin) in Pt with Muscular Dystrophy & Cardiomyopathy
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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