Naomi Issler

London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 13 publications

A missense mutation in Ehd1 associated with defective spermatogenesis and male infertility.

A missense mutation in Ehd1 associated with defective spermatogenesis and male infertility.

Journal: Frontiers in cell and developmental biology

Published: June 16, 2023

Estimated pediatric glomerular filtration rate presentation improves the detection rate of kidney impairment in children.

Estimated pediatric glomerular filtration rate presentation improves the detection rate of kidney impairment in children.

Journal: Pediatric nephrology (Berlin, Germany)

Published: October 20, 2022

A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.

A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.

Journal: Journal of the American Society of Nephrology : JASN

Published: October 06, 2021

A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insights.

A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insights.

Journal: Pediatric nephrology (Berlin, Germany)

Published: August 23, 2021

Quantification of FAM20A in human milk and identification of calcium metabolism proteins.

Quantification of FAM20A in human milk and identification of calcium metabolism proteins.

Journal: Physiological reports

Published: January 20, 2021

The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis.

The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis.

Journal: Nature communications

Published: August 28, 2019

Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome.

Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome.

Journal: Journal of the American Society of Nephrology : JASN

Published: October 28, 2018

Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.

Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.

Journal: Journal of the American Society of Nephrology : JASN

Published: November 13, 2017

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

Journal: Journal of the American Society of Nephrology : JASN

Published: December 14, 2016

Epidemiology of paediatric renal stone disease: a 22-year single centre experience in the UK.

Epidemiology of paediatric renal stone disease: a 22-year single centre experience in the UK.

Journal: BMC nephrology

Published: November 01, 2016

KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16.

KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16.

Journal: Nephron. Physiology

Published: July 24, 2013

Renal hypodysplasia associates with a WNT4 variant that causes aberrant canonical WNT signaling.

Renal hypodysplasia associates with a WNT4 variant that causes aberrant canonical WNT signaling.

Journal: Journal of the American Society of Nephrology : JASN

Published: March 23, 2013

Showing 1-12 of 13

Last Updated: 09/26/2026