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Detlef Bockenhauer

Showing results (181-190 of 233) with videos related to

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Nature Reviews. Nephrology|January 15, 2025
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemiaDieter Haffner, Francesco Emma, Lothar Seefried, et al.
Kidney International|July 8, 2021
An international cohort study spanning five decades assessed outcomes of nephropathic cystinosisFrancesco Emma, William Van't Hoff, Katharina Hohenfellner, et al.
Kidney International|October 22, 2015
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicityDaniela A Braun, Markus Schueler, Jan Halbritter, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|November 28, 2022
Clinical and genetic characteristics of Dent's disease type 1 in EuropeCarla Burballa, Gerard Cantero-Recasens, Larisa Prikhodina, et al.
Nature Reviews. Nephrology|May 24, 2019
International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young peopleCharlotte Gimpel, Carsten Bergmann, Detlef Bockenhauer, et al.
Elife|September 20, 2022
Diverse ancestry whole-genome sequencing association study identifies <i>TBX5</i> and <i>PTK7</i> as susceptibility genes for posterior urethral valvesMelanie M Y Chan, Omid Sadeghi-Alavijeh, Filipa M Lopes, et al.
Journal of the American Society of Nephrology : JASN|October 29, 2014
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndromeCarolin E Sadowski, Svjetlana Lovric, Shazia Ashraf, et al.
Nature Genetics|August 3, 2004
Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorderRobert Kleta, Elisa Romeo, Zorica Ristic, et al.
American Journal of Ophthalmology|August 2, 2008
Ophthalmological aspects of Pierson syndromeCecilie Bredrup, Verena Matejas, Margaret Barrow, et al.
Journal of the American Society of Nephrology : JASN|April 25, 2009
HNF1B mutations associate with hypomagnesemia and renal magnesium wastingShazia Adalat, Adrian S Woolf, Karen A Johnstone, et al.
Pageof 24

Showing results (181-190 of 233) with videos related to

Sort By:
Pageof 24
Nature Reviews. Nephrology|January 15, 2025
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemiaDieter Haffner, Francesco Emma, Lothar Seefried, et al.
Kidney International|July 8, 2021
An international cohort study spanning five decades assessed outcomes of nephropathic cystinosisFrancesco Emma, William Van't Hoff, Katharina Hohenfellner, et al.
Kidney International|October 22, 2015
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicityDaniela A Braun, Markus Schueler, Jan Halbritter, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|November 28, 2022
Clinical and genetic characteristics of Dent's disease type 1 in EuropeCarla Burballa, Gerard Cantero-Recasens, Larisa Prikhodina, et al.
Nature Reviews. Nephrology|May 24, 2019
International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young peopleCharlotte Gimpel, Carsten Bergmann, Detlef Bockenhauer, et al.
Elife|September 20, 2022
Diverse ancestry whole-genome sequencing association study identifies <i>TBX5</i> and <i>PTK7</i> as susceptibility genes for posterior urethral valvesMelanie M Y Chan, Omid Sadeghi-Alavijeh, Filipa M Lopes, et al.
Journal of the American Society of Nephrology : JASN|October 29, 2014
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndromeCarolin E Sadowski, Svjetlana Lovric, Shazia Ashraf, et al.
Nature Genetics|August 3, 2004
Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorderRobert Kleta, Elisa Romeo, Zorica Ristic, et al.
American Journal of Ophthalmology|August 2, 2008
Ophthalmological aspects of Pierson syndromeCecilie Bredrup, Verena Matejas, Margaret Barrow, et al.
Journal of the American Society of Nephrology : JASN|April 25, 2009
HNF1B mutations associate with hypomagnesemia and renal magnesium wastingShazia Adalat, Adrian S Woolf, Karen A Johnstone, et al.
Pageof 24