[Genetic diagnosis of monogenic inherited endocrine and metabolic diseases: from bench to bedside].
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D019295:Computational Biology; D004700:Endocrine System Diseases / Q000175:diagnosis* / Q000235:genetics; D005786:Gene Expression Regulation; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D019656:Loss of Heterozygosity; D008659:Metabolic Diseases / Q000175:diagnosis* / Q000235:genetics; D019095:Point-of-Care Systems