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Recommendations for whole genome sequencing in diagnostics for rare diseases
UploadRadiological Patterns of Uveal Melanoma Liver Metastases in Correlation to Genetic Status
Download from doi.orgHeritability and De Novo Mutations in Oesophageal Atresia and Tracheoesophageal Fistula Aetiology
Download from doi.orgMolecular Genetics of Conjunctival Melanoma and Prognostic Value of TERT Promoter Mutation Analysis
Download from doi.orgGenetics of Ocular Melanoma: Insights into Genetics, Inheritance and Testing
Download from doi.orgSpliceosome Mutations in Uveal Melanoma
Download from doi.orgA complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease
Download from doi.orgBiallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy
Download from www.researchgate.netPathogenetics of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins
Download from link.springer.comStructural and numerical changes of chromosome X in patients with esophageal atresia
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