Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Detlef Bockenhauer

Showing results (221-230 of 233) with videos related to

Pageof 24
Sort By:
Kidney International Reports|August 19, 2024
Renal and Extrarenal Phenotypes in Patients With <i>HNF1B</i> Variants and Chromosome 17q12 MicrodeletionsBénédicte Buffin-Meyer, Juliette Richard, Vincent Guigonis, et al.
Nature|January 24, 2012
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalitiesLynn M Boyden, Murim Choi, Keith A Choate, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 20, 2020
Pseudouridylation defect due to <i>DKC1</i> and <i>NOP10</i> mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitisEszter Balogh, Jennifer C Chandler, Máté Varga, et al.
Journal of the American Society of Nephrology : JASN|April 15, 2018
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney FailureMarkus Reichold, Enriko D Klootwijk, Joerg Reinders, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|February 19, 2019
Treatment and long-term outcome in primary distal renal tubular acidosisSergio Camilo Lopez-Garcia, Francesco Emma, Stephen B Walsh, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|February 9, 2022
Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional studyMaartje F A Verploegen, Rosa Vargas-Poussou, Stephen B Walsh, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|December 28, 2020
Treatment and long-term outcome in primary nephrogenic diabetes insipidusSergio C Lopez-Garcia, Mallory L Downie, Ji Soo Kim, et al.
Clinical Journal of the American Society of Nephrology : CJASN|November 12, 2017
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic SyndromeJillian K Warejko, Weizhen Tan, Ankana Daga, et al.
Medrxiv : the Preprint Server for Health Sciences|January 10, 2024
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project dataValentina Cipriani, Letizia Vestito, Emma F Magavern, et al.
Nature|February 26, 2025
Rare disease gene association discovery in the 100,000 Genomes ProjectValentina Cipriani, Letizia Vestito, Emma F Magavern, et al.
Pageof 24

Showing results (221-230 of 233) with videos related to

Sort By:
Pageof 24
Kidney International Reports|August 19, 2024
Renal and Extrarenal Phenotypes in Patients With <i>HNF1B</i> Variants and Chromosome 17q12 MicrodeletionsBénédicte Buffin-Meyer, Juliette Richard, Vincent Guigonis, et al.
Nature|January 24, 2012
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalitiesLynn M Boyden, Murim Choi, Keith A Choate, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 20, 2020
Pseudouridylation defect due to <i>DKC1</i> and <i>NOP10</i> mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitisEszter Balogh, Jennifer C Chandler, Máté Varga, et al.
Journal of the American Society of Nephrology : JASN|April 15, 2018
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney FailureMarkus Reichold, Enriko D Klootwijk, Joerg Reinders, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|February 19, 2019
Treatment and long-term outcome in primary distal renal tubular acidosisSergio Camilo Lopez-Garcia, Francesco Emma, Stephen B Walsh, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|February 9, 2022
Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional studyMaartje F A Verploegen, Rosa Vargas-Poussou, Stephen B Walsh, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|December 28, 2020
Treatment and long-term outcome in primary nephrogenic diabetes insipidusSergio C Lopez-Garcia, Mallory L Downie, Ji Soo Kim, et al.
Clinical Journal of the American Society of Nephrology : CJASN|November 12, 2017
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic SyndromeJillian K Warejko, Weizhen Tan, Ankana Daga, et al.
Medrxiv : the Preprint Server for Health Sciences|January 10, 2024
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project dataValentina Cipriani, Letizia Vestito, Emma F Magavern, et al.
Nature|February 26, 2025
Rare disease gene association discovery in the 100,000 Genomes ProjectValentina Cipriani, Letizia Vestito, Emma F Magavern, et al.
Pageof 24