– A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
– Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
– New insights into the generation and role of de novo mutations in health and disease
– Characterizing the morbid genome of ciliopathies
– Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing
– Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden
Aplicaciones diagnósticas de las tecnologías de secuenciación
Filed under Defectos congénitos, Diagnóstico, Genómica, Medicina personalizada, Polimorfismos by on . 
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