Résultat de recherche

CDG: An Online Server for Detecting Biologically Closest Disease-Causing...

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1...

Inherited p40phox deficiency differs from classic chronic granulomatous...

A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent...

Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacteriosis...

Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli...

Biallelic mutations in DNA ligase 1 underlie a spectrum of immune defi...

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral ...

An eQTL variant of ZXDC is associated with IFN-γ production following...

Deciphering the genetic control of gene expression following Mycobacterium...

Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated...

Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis.

A genome wide association study identifies a lncRna as risk factor for...

Population Pharmacokinetic Modeling of Tenofovir in the Genital Tract of...

A new 3p25 locus is associated with liver fibrosis progression in human...

Exome and genome sequencing for inborn errors of immunity.

BRIP1 coding variants are associated with a high risk of hepatocellular...

Whole-exome sequencing to analyze population structure, parental inbreeding,...

Pauci- and Multibacillary Leprosy: Two Distinct, Genetically Neglected...

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.