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Heart Transplantation in a Patient with Myotonic Dystrophy Type 1 and End-Stage Dilated Cardiomyopathy: A Short Term Follow-up
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A Neonate with Micrognathia and Hypotonia
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A 52-year-old Woman with Progressive Proximal Weakness
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Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia: Histology, In Vitro Contracture Tests, and Genetic Characterization
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Bicuspid Aortic Valve - A Silent Danger: Analysis of 50 Cases of Infective Endocarditis
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Wolfram Syndrome:Hereditary Diabetes Mellitus with Brainstem and Optic Atrophy
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Genotype-Phenotype Correlation in Adult-Onset Acid Maltase Deficiency
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