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Hereditary carrier

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Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies

Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB)

Neonatal Group B Streptococcal Disease in Otherwise Healthy Infants: Failure of Specific Neonatal Immune Responses

T-cell surface modification with synthetic nanomaterials for cell-mediated delivery to the central nervous system

Familial segregation of group B streptococcal infection in a consanguineous kindred

Alpha7 subunit of the nicotinergic acethylcholine receptor gene (CHRNA7) and perception of coherent motion in aging

Evidence that low socioeconomic position accentuates genetic susceptibility to obesity

Mutations in the polyglutamylase geneTTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility

Impact of HSD11B1 polymorphisms on BMI and components of the metabolic syndrome in patients receiving psychotropic treatments