Elisabet Ars
Barcelona, CT, Spain
Last Updated: 09/26/2026
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Found 69 publications
Gene-disease relationships for glomerular phenotypes: expert recommendations from ClinGen.
Journal: Nature reviews. Nephrology
Published: May 01, 2026
Phenotypic variability in cystinosis: Lessons from an atypical case.
Journal: Nefrologia
Published: March 22, 2025
Genetic determinants of testicular sperm extraction outcomes: insights from a large multicentre study of men with non-obstructive azoospermia.
Journal: Human reproduction open
Published: January 24, 2025
When should the nephrologist think about genetics in patients with glomerular diseases?
Journal: Clinical kidney journal
Published: December 17, 2024
Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants.
Journal: Journal of the American Society of Nephrology : JASN
Published: August 06, 2024
Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140.
Journal: American journal of kidney diseases : the official journal of the National Kidney Foundation
Published: April 08, 2024
Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants.
Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
Published: July 10, 2023
The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease.
Journal: Case reports in genetics
Published: August 17, 2022
Digenic Alport Syndrome.
Journal: Clinical journal of the American Society of Nephrology : CJASN
Published: June 08, 2022
Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure.
Journal: American journal of human genetics
Published: March 24, 2022
Last Updated: 09/26/2026