Publications by authors named "Naomi Issler"

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A missense mutation in associated with defective spermatogenesis and male infertility.
Katrin Meindl, Naomi Issler, Sara Afonso, Alberto Cebrian-Serrano, Karin Müller

Front Cell Dev Biol· October 2023

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Estimated pediatric glomerular filtration rate presentation improves the detection rate of kidney impairment in children.
Aviad Schnapp, Yonatan Egger, O N Ray Bignall, Naomi Issler, Oded Volovelsky

Pediatr Nephrol· September 2023

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A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insights.
Ben Pode-Shakked, Yishay Ben-Moshe, Ortal Barel, Lilach C Regev, Maayan Kagan, Naomi Issler

Pediatr Nephrol· July 2022

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A Founder Mutation in Presents with Tubular Proteinuria and Deafness.
Naomi Issler, Sara Afonso, Irith Weissman, Katrin Jordan, Alberto Cebrian-Serrano

J Am Soc Nephrol· April 2022

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Quantification of FAM20A in human milk and identification of calcium metabolism proteins.
Vaksha Patel, Enriko Klootwijk, Gail Whiting, Detlef Bockenhauer, Keith Siew, Naomi Issler

Physiol Rep· December 2021

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The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis.
Jingyuan Xie, Lili Liu, Nikol Mladkova, Yifu Li, Hong Ren, Naomi Issler

Nat Commun· March 2020

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Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome.
Stephanie Dufek, Chris Cheshire, Adam P Levine, Richard S Trompeter, Naomi Issler

J Am Soc Nephrol· August 2019

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Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
Markus Reichold, Enriko D Klootwijk, Joerg Reinders, Edgar A Otto, Mario Milani, Naomi Issler

J Am Soc Nephrol· July 2018

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Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
Oscar Rubio Cabezas, Sarah E Flanagan, Horia Stanescu, Elena García-Martínez, Richard Caswell, Naomi Issler

J Am Soc Nephrol· August 2017

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Epidemiology of paediatric renal stone disease: a 22-year single centre experience in the UK.
Naomi Issler, Stephanie Dufek, Robert Kleta, Detlef Bockenhauer, Naima Smeulders

BMC Nephrol· April 2017

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KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16.
Sophie Parrock, Sofia Hussain, Naomi Issler, Ann-Marie Differ, Nicholas Lench

Nephron Physiol· June 2014

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Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
Graciana Jaureguiberry, Muriel De la Dure-Molla, David Parry, Mickael Quentric, Nina Himmerkus, Naomi Issler

Nephron Physiol· October 2013

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Renal hypodysplasia associates with a WNT4 variant that causes aberrant canonical WNT signaling.
Asaf Vivante, Michal Mark-Danieli, Miriam Davidovits, Orit Harari-Steinberg, Dorit Omer, Naomi Issler

J Am Soc Nephrol· March 2013

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