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B Beck

Showing results (641-650 of 718) with videos related to

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Scientific Reports|March 10, 2018
Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutationsAndrea Wenzel, Janine Altmueller, Arif B Ekici, et al.
Journal of the American Society of Nephrology : JASN|July 28, 2018
Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease RecognitionKarl X Knaup, Thomas Hackenbeck, Bernt Popp, et al.
Nature Communications|August 20, 2025
Non-linear bonding trends in maleonitrile-1,2-dithiolate complexes of the transuranium actinidesNicholas B Beck, Cristian Celis-Barros, Madeline C Martelles, et al.
Human Molecular Genetics|February 23, 2010
Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expressionFrank Zaucke, Joana M Boehnlein, Sarah Steffens, et al.
European Journal of Haematology|February 15, 2023
VEXAS syndrome: A review of bone marrow aspirate and biopsies reporting myeloid and erythroid precursor vacuolationHannah Cherniawsky, Jordan Friedmann, Hamish Nicolson, et al.
Kidney International Reports|July 11, 2022
Improved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope RegistryLisa J Deesker, Sander F Garrelfs, Giorgia Mandrile, et al.
American Journal of Human Genetics|January 5, 2019
Mutations of ADAMTS9 Cause Nephronophthisis-Related CiliopathyYo Jun Choi, Jan Halbritter, Daniela A Braun, et al.
Kidney International Reports|February 5, 2024
Multicenter Long-Term Real World Data on Treatment With Lumasiran in Patients With Primary Hyperoxaluria Type 1Cristina Martin-Higueras, Lodovica Borghese, Armando Torres, et al.
Clinical Kidney Journal|July 3, 2026
Primary hyperoxaluria type 1-current practice in the siRNA era: an ERA Genes & Kidney Working Group surveyMalte P Bartram, Giovambattista Capasso, Emilie Cornec-Le Gall, et al.
Research Square|December 31, 2025
Type I interferon-mediated autoinflammation in two unrelated patients due to a proximal intronic splice site variant in DNASE2Oskar Schnappauf, Hongying Wang, Qing Zhou, et al.
Pageof 72

Showing results (641-650 of 718) with videos related to

Sort By:
Pageof 72
Scientific Reports|March 10, 2018
Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutationsAndrea Wenzel, Janine Altmueller, Arif B Ekici, et al.
Journal of the American Society of Nephrology : JASN|July 28, 2018
Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease RecognitionKarl X Knaup, Thomas Hackenbeck, Bernt Popp, et al.
Nature Communications|August 20, 2025
Non-linear bonding trends in maleonitrile-1,2-dithiolate complexes of the transuranium actinidesNicholas B Beck, Cristian Celis-Barros, Madeline C Martelles, et al.
Human Molecular Genetics|February 23, 2010
Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expressionFrank Zaucke, Joana M Boehnlein, Sarah Steffens, et al.
European Journal of Haematology|February 15, 2023
VEXAS syndrome: A review of bone marrow aspirate and biopsies reporting myeloid and erythroid precursor vacuolationHannah Cherniawsky, Jordan Friedmann, Hamish Nicolson, et al.
Kidney International Reports|July 11, 2022
Improved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope RegistryLisa J Deesker, Sander F Garrelfs, Giorgia Mandrile, et al.
American Journal of Human Genetics|January 5, 2019
Mutations of ADAMTS9 Cause Nephronophthisis-Related CiliopathyYo Jun Choi, Jan Halbritter, Daniela A Braun, et al.
Kidney International Reports|February 5, 2024
Multicenter Long-Term Real World Data on Treatment With Lumasiran in Patients With Primary Hyperoxaluria Type 1Cristina Martin-Higueras, Lodovica Borghese, Armando Torres, et al.
Clinical Kidney Journal|July 3, 2026
Primary hyperoxaluria type 1-current practice in the siRNA era: an ERA Genes & Kidney Working Group surveyMalte P Bartram, Giovambattista Capasso, Emilie Cornec-Le Gall, et al.
Research Square|December 31, 2025
Type I interferon-mediated autoinflammation in two unrelated patients due to a proximal intronic splice site variant in DNASE2Oskar Schnappauf, Hongying Wang, Qing Zhou, et al.
Pageof 72