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Jan Halbritter

Showing results (31-40 of 106) with videos related to

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Clinical Kidney Journal|January 12, 2024
Mechanisms of pathogenicity and the quest for genetic modifiers of kidney disease in branchiootorenal syndromeSebastian Sewerin, Charlotte Aurnhammer, Cene Skubic, et al.
The Journal of Biological Chemistry|August 17, 2018
The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal developmentSylvia Hoff, Daniel Epting, Nathalie Falk, et al.
Human Genetics|April 6, 2013
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathyJan Halbritter, Jonathan D Porath, Katrina A Diaz, et al.
Kidney International|April 28, 2019
Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal diseaseIsabel Ottlewski, Johannes Münch, Timo Wagner, et al.
Journal of the American Society of Nephrology : JASN|May 24, 2020
A Deregulated Stress Response Underlies Distinct INF2-Associated Disease ProfilesSamet Bayraktar, Julian Nehrig, Ekaterina Menis, et al.
Pharmacogenomics|August 12, 2011
Role of genetic variation in the human sodium-glucose cotransporter 2 gene (SGLT2) in glucose homeostasisUta Enigk, Jana Breitfeld, Dorit Schleinitz, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|August 27, 2025
CAKUT subtypes determine the rate of progression to kidney failure - an adult patient cohort studyCharlotte Hammett, Friederike Petzold, Sarah Stopp, et al.
Clinical Journal of the American Society of Nephrology : CJASN|April 19, 2014
Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndromeSvjetlana Lovric, Humphrey Fang, Virginia Vega-Warner, et al.
Clinical Kidney Journal|October 27, 2025
10 tips on how to take a proper family history in CKD patient careEmilie Cornec-Le Gall, Albertien M van Eerde, Lucile Figueres, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|May 15, 2026
Albuminuria drives hyperlipidemia in patients with Alport syndromeOliver Gross, Annika Jens, Agne Cerkauskaite-Kerpauskiene, et al.
Pageof 11

Showing results (31-40 of 106) with videos related to

Sort By:
Pageof 11
Clinical Kidney Journal|January 12, 2024
Mechanisms of pathogenicity and the quest for genetic modifiers of kidney disease in branchiootorenal syndromeSebastian Sewerin, Charlotte Aurnhammer, Cene Skubic, et al.
The Journal of Biological Chemistry|August 17, 2018
The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal developmentSylvia Hoff, Daniel Epting, Nathalie Falk, et al.
Human Genetics|April 6, 2013
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathyJan Halbritter, Jonathan D Porath, Katrina A Diaz, et al.
Kidney International|April 28, 2019
Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal diseaseIsabel Ottlewski, Johannes Münch, Timo Wagner, et al.
Journal of the American Society of Nephrology : JASN|May 24, 2020
A Deregulated Stress Response Underlies Distinct INF2-Associated Disease ProfilesSamet Bayraktar, Julian Nehrig, Ekaterina Menis, et al.
Pharmacogenomics|August 12, 2011
Role of genetic variation in the human sodium-glucose cotransporter 2 gene (SGLT2) in glucose homeostasisUta Enigk, Jana Breitfeld, Dorit Schleinitz, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|August 27, 2025
CAKUT subtypes determine the rate of progression to kidney failure - an adult patient cohort studyCharlotte Hammett, Friederike Petzold, Sarah Stopp, et al.
Clinical Journal of the American Society of Nephrology : CJASN|April 19, 2014
Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndromeSvjetlana Lovric, Humphrey Fang, Virginia Vega-Warner, et al.
Clinical Kidney Journal|October 27, 2025
10 tips on how to take a proper family history in CKD patient careEmilie Cornec-Le Gall, Albertien M van Eerde, Lucile Figueres, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|May 15, 2026
Albuminuria drives hyperlipidemia in patients with Alport syndromeOliver Gross, Annika Jens, Agne Cerkauskaite-Kerpauskiene, et al.
Pageof 11