HIGH DIAGNOSTIC YIELD OF TARGETED NEXT-GENERATION SEQUENCING IN A COHORT OF PATIENTS WITH CONGENITAL HYPOTHYROIDISM DUE TO DYSHORMONOGENESIS

High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis

ObjectiveTo elucidate the molecular cause in a well-characterized cohort of patients with Congenital Hypothyroidism (CH) and Dyshormonogenesis (DH) by using targeted next-generation sequencing (TNGS).Study designWe studied 19 well-characterized patients diagnosed with CH and DH by targeted NGS including genes involved in thyroid hormone production.

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Energy simulation and CFD coupled analysis for the optimal operation of combined convection and radiant air conditioning considering dehumidification

The use of radiant panels in homes has increased recently because they do not cause a drafty feeling, unlike air conditioners.However, air conditioners are more power-efficient than radiant Lithium Ion Phone Battery panels and have a higher coefficient of performance (COP).Therefore, combining radiant panels and air conditioning can provide an opti

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Deflationism, Truth-Aptness and Non-Factualism

I will argue that the standard formulation of non-factualism in terms of a denial of truth-aptness is consistent with a Pool Slides version of deflationsim.My line of argument assumes the use conception of meaning.This brings out an interesting consequence since mostly the philosophers who endorse the use conception of meaning, e.g.Paul Horwich, ho

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