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Detlef Bockenhauer

Showing results (151-160 of 233) with videos related to

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Proceedings of the National Academy of Sciences of the United States of America|July 24, 2010
KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel functionMarkus Reichold, Anselm A Zdebik, Evelyn Lieberer, et al.
Glomerular Diseases|April 24, 2023
A Genetic Risk Score Distinguishes Different Types of Autoantibody-Mediated Membranous NephropathySanjana Gupta, Mallory Lorraine Downie, Chris Cheshire, et al.
The Journal of Clinical Endocrinology and Metabolism|October 13, 2018
A New Multisystem Disorder Caused by the Gαs Mutation p.F376VHeike Biebermann, Gunnar Kleinau, Dirk Schnabel, et al.
Kidney International|September 24, 2017
Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies ConferenceSégolène Aymé, Detlef Bockenhauer, Simon Day, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|February 23, 2010
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)Dominik S Schoeb, Gil Chernin, Saskia F Heeringa, et al.
Kidney International|November 2, 2019
High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adultsMarguerite Hureaux, Emma Ashton, Karin Dahan, et al.
Kidney International Reports|August 7, 2023
Common Risk Variants in <i>AHI1</i> Are Associated With Childhood Steroid Sensitive Nephrotic SyndromeMallory L Downie, Sanjana Gupta, Catalin Voinescu, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|April 29, 2021
Distal renal tubular acidosis: ERKNet/ESPN clinical practice pointsFrancesco Trepiccione, Steven B Walsh, Gema Ariceta, et al.
Developmental Medicine and Child Neurology|August 9, 2013
Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndromeJ Helen Cross, Ruchi Arora, Rolf A Heckemann, et al.
Plos One|August 23, 2011
Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletionsDalia Kasperavičiūtė, Claudia B Catarino, Krishna Chinthapalli, et al.
Pageof 24

Showing results (151-160 of 233) with videos related to

Sort By:
Pageof 24
Proceedings of the National Academy of Sciences of the United States of America|July 24, 2010
KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel functionMarkus Reichold, Anselm A Zdebik, Evelyn Lieberer, et al.
Glomerular Diseases|April 24, 2023
A Genetic Risk Score Distinguishes Different Types of Autoantibody-Mediated Membranous NephropathySanjana Gupta, Mallory Lorraine Downie, Chris Cheshire, et al.
The Journal of Clinical Endocrinology and Metabolism|October 13, 2018
A New Multisystem Disorder Caused by the Gαs Mutation p.F376VHeike Biebermann, Gunnar Kleinau, Dirk Schnabel, et al.
Kidney International|September 24, 2017
Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies ConferenceSégolène Aymé, Detlef Bockenhauer, Simon Day, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|February 23, 2010
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)Dominik S Schoeb, Gil Chernin, Saskia F Heeringa, et al.
Kidney International|November 2, 2019
High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adultsMarguerite Hureaux, Emma Ashton, Karin Dahan, et al.
Kidney International Reports|August 7, 2023
Common Risk Variants in <i>AHI1</i> Are Associated With Childhood Steroid Sensitive Nephrotic SyndromeMallory L Downie, Sanjana Gupta, Catalin Voinescu, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|April 29, 2021
Distal renal tubular acidosis: ERKNet/ESPN clinical practice pointsFrancesco Trepiccione, Steven B Walsh, Gema Ariceta, et al.
Developmental Medicine and Child Neurology|August 9, 2013
Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndromeJ Helen Cross, Ruchi Arora, Rolf A Heckemann, et al.
Plos One|August 23, 2011
Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletionsDalia Kasperavičiūtė, Claudia B Catarino, Krishna Chinthapalli, et al.
Pageof 24