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Brain : a Journal of Neurology|March 24, 2017
SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndromeYonatan Perez, Zamir Shorer, Keren Liani-Leibson, et al.Journal of the American Society of Nephrology : JASN|March 23, 2013
Renal hypodysplasia associates with a WNT4 variant that causes aberrant canonical WNT signalingAsaf Vivante, Michal Mark-Danieli, Miriam Davidovits, et al.Pediatric Nephrology (Berlin, Germany)|May 13, 2014
An audit analysis of a guideline for the investigation and initial therapy of diarrhea negative (atypical) hemolytic uremic syndromeSally Johnson, Jelena Stojanovic, Gema Ariceta, et al.Biomedicines|August 6, 2021
Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics AspectsHava Peretz, Ayala Lagziel, Florian Bittner, et al.Pediatric Nephrology (Berlin, Germany)|January 7, 2022
A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insightsBen Pode-Shakked, Yishay Ben-Moshe, Ortal Barel, et al.Pediatric Nephrology (Berlin, Germany)|April 11, 2015
An international consensus approach to the management of atypical hemolytic uremic syndrome in childrenChantal Loirat, Fadi Fakhouri, Gema Ariceta, et al.Journal of the American Society of Nephrology : JASN|August 23, 2002
Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidusNannette Marr, Daniel G Bichet, Susan Hoefs, et al.Nature Genetics|July 23, 2003
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determinationEdgar A Otto, Bernhard Schermer, Tomoko Obara, et al.Nature Medicine|August 7, 2025
Geographical shifting of cholera burden in Africa and its implications for disease controlJavier Perez-Saez, Qulu Zheng, Joshua Kaminsky, et al.Pageof 12