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

Carsten Bergmann

Showing results (121-130 of 228) with videos related to

Pageof 23
Sort By:
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|January 13, 2022
Lifelong effect of therapy in young patients with the COL4A5 Alport missense variant p.(Gly624Asp): a prospective cohort studyJan Boeckhaus, Julia Hoefele, Korbinian M Riedhammer, et al.
Molecular Genetics and Metabolism Reports|October 24, 2019
Molecular based newborn screening in Germany: Follow-up for cystinosisKatharina Hohenfellner, Carsten Bergmann, Tobias Fleige, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 8, 2014
Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesisWybrich R Cnossen, René H M te Morsche, Alexander Hoischen, et al.
Pediatric Nephrology (Berlin, Germany)|February 8, 2014
Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathiesHenry Fehrenbach, Christian Decker, Tobias Eisenberger, et al.
Pediatric Transplantation|May 9, 2006
Successful transplantation in a child with rapid progression of autosomal recessive polycystic kidney disease associated with a novel mutationMartina Prelog, Carsten Bergmann, Michael J Ausserlechner, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|January 30, 2009
Activation of the AKT/mTOR pathway in autosomal recessive polycystic kidney disease (ARPKD)Dagmar-Christiane Fischer, Ulrike Jacoby, Lars Pape, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|December 25, 2012
Double homozygous missense mutations in DACH1 and BMP4 in a patient with bilateral cystic renal dysplasiaRaphael Schild, Tanja Knüppel, Martin Konrad, et al.
European Journal of Endocrinology|May 29, 2019
Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein-Taybi syndromeAlena Welters, Ranna El-Khairi, Antonia Dastamani, et al.
American Journal of Medical Genetics|July 13, 2002
Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate geneLuiz F Onuchic, Michal Mrug, Xiaoying Hou, et al.
Plos One|February 4, 2015
An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney diseaseTobias Eisenberger, Christian Decker, Milan Hiersche, et al.
Pageof 23

Showing results (121-130 of 228) with videos related to

Sort By:
Pageof 23
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|January 13, 2022
Lifelong effect of therapy in young patients with the COL4A5 Alport missense variant p.(Gly624Asp): a prospective cohort studyJan Boeckhaus, Julia Hoefele, Korbinian M Riedhammer, et al.
Molecular Genetics and Metabolism Reports|October 24, 2019
Molecular based newborn screening in Germany: Follow-up for cystinosisKatharina Hohenfellner, Carsten Bergmann, Tobias Fleige, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 8, 2014
Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesisWybrich R Cnossen, René H M te Morsche, Alexander Hoischen, et al.
Pediatric Nephrology (Berlin, Germany)|February 8, 2014
Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathiesHenry Fehrenbach, Christian Decker, Tobias Eisenberger, et al.
Pediatric Transplantation|May 9, 2006
Successful transplantation in a child with rapid progression of autosomal recessive polycystic kidney disease associated with a novel mutationMartina Prelog, Carsten Bergmann, Michael J Ausserlechner, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|January 30, 2009
Activation of the AKT/mTOR pathway in autosomal recessive polycystic kidney disease (ARPKD)Dagmar-Christiane Fischer, Ulrike Jacoby, Lars Pape, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|December 25, 2012
Double homozygous missense mutations in DACH1 and BMP4 in a patient with bilateral cystic renal dysplasiaRaphael Schild, Tanja Knüppel, Martin Konrad, et al.
European Journal of Endocrinology|May 29, 2019
Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein-Taybi syndromeAlena Welters, Ranna El-Khairi, Antonia Dastamani, et al.
American Journal of Medical Genetics|July 13, 2002
Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate geneLuiz F Onuchic, Michal Mrug, Xiaoying Hou, et al.
Plos One|February 4, 2015
An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney diseaseTobias Eisenberger, Christian Decker, Milan Hiersche, et al.
Pageof 23