Patricia Ruiz - Publications

Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations in Tunisian patients.

Journal: Journal of human genetics

Published: November 20, 2020

Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.

Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

Published: July 28, 2020

Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.

Journal: American journal of kidney diseases : the official journal of the National Kidney Foundation

Published: May 16, 2020

MYH9 Associated nephropathy.

Journal: Nefrologia

Published: February 15, 2018

A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases.

Journal: Kidney international

Published: September 13, 2017

Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1.

Journal: American journal of kidney diseases : the official journal of the National Kidney Foundation

Published: August 23, 2017

Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease.

Journal: Pediatric nephrology (Berlin, Germany)

Published: July 01, 2013

Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory.

Journal: European journal of human genetics : EJHG

Published: May 14, 2013

Morphological changes of gel-type functional polymers after intermatrix synthesis of polymer stabilized silver nanoparticles.

Journal: Nanoscale research letters

Published: November 15, 2012