Associated Papers
ENaC gene variants and their involvement in Covid‑19 severity.
Koniari E et al.
Biomedical Reports, 2024
Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome.
Wu SW et al.
Italian Journal of Pediatrics, 2021
34289880 (PubMed )
Supplement: 13052_2021_1112_MOESM2_ESM.xlsx › Sheet1
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
32695137 (PubMed )
Supplement: Data_Sheet_2.XLSX › Actionable_conditions
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
31813827 (PubMed )
Supplement: mmc2.xlsx › SNVs
Pathophysiology and Genetics of Bronchiectasis Unrelated to Cystic Fibrosis.
Nikolic A
Lung, 2018
Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases.
Hanukoglu I et al.
Gene, 2016
Pulmonary Nontuberculous Mycobacterial Infection. A Multisystem, Multigenic Disease.
Szymanski EP et al.
American Journal of Respiratory and Critical Care Medicine, 2015
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
25333069 (PubMed )
Supplement: mgg30002-0438-SD2.pdf
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.
Azad AK et al.
Human Mutation, 2009
Could a defective epithelial sodium channel lead to bronchiectasis.
Fajac I et al.
Respiratory Research, 2008
Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome.
Sheridan MB et al.
Human Molecular Genetics, 2005
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