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Clinical Characteristics of Renal Cell Carcinoma in Korean Patients with von Hippel-Lindau Disease Compared to Sporadic Bilateral or Multifocal Renal Cell Carcinoma
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Survival analysis of spinal muscular atrophy type I
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X-linked Myotubular Myopathy in a Family with Two Infant Siblings: A Case with MTM1 Mutation
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Acute treatment of hyperammonemia by continuous renal replacement therapy in a newborn patient with ornithine transcarbamylase deficiency
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The first case of familial mediterranean fever associated with renal amyloidosis in Korea
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A modified Atkin's diet for an infant with pyruvate dehydrogenase complex deficiency confirmed by PDHA1 gene mutation
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Unravelling the mechanism of action of enzyme replacement therapy in Fabry disease
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Diagnosis of Severe Protein C Deficiency Confirmed by Presence of Rare PROC Gene Mutation
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Congenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing
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A Patient Diagnosed with Spinocerebellar Ataxia Type 5 associated with SPTBN2: Case Repor
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Clinical application of next-generation sequencing for the diagnosis of segmental neurofibromatosis
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Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation
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Alpers-Huttenlocher Syndrome First Presented with Hepatic Failure: Can Liver Transplantation Be Considered as Treatment Option?
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A Novel Heterozygous ANO3 Mutation with Basal Ganglia Dysfunction in a Patient with Adult-Onset Isolated Segmental Dystonia
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Oral Pyridostigmine-Responsive Visceral Myopathy with ACTG2 Mutations: A case series
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Genitopatellar syndrome secondary to de novo KAT6B mutation: The first genetically confirmed case in South Korea
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Fructose-1,6-bisphosphatase deficiency presented with complex febrile convulsion
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Implementation of a Targeted Next-Generation Sequencing Panel for Constitutional Newborn Screening in High-Risk Neonates
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