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Jan Halbritter

Showing results (91-100 of 106) with videos related to

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Nature Communications|October 22, 2015
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilizationAlbane A Bizet, Anita Becker-Heck, Rebecca Ryan, et al.
American Journal of Human Genetics|January 17, 2017
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent NephronophthisisMaxence S Macia, Jan Halbritter, Marion Delous, et al.
Journal of Nephrology|January 30, 2025
The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney diseaseElhussein A E Elhassan, Kane E Collins, Sophia Heneghan, et al.
The Journal of Clinical Investigation|December 16, 2024
Disrupted uromodulin trafficking is rescued by targeting TMED cargo receptorsSilvana Bazua-Valenti, Matthew R Brown, Jason Zavras, et al.
American Journal of Human Genetics|May 19, 2023
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletionsRia Schönauer, Wenjun Jin, Christin Findeisen, et al.
Kidney International|March 1, 2022
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tractJohannes Münch, Marie Engesser, Ria Schönauer, et al.
Nature Genetics|June 25, 2013
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3Sylvia Hoff, Jan Halbritter, Daniel Epting, et al.
Kidney International|September 13, 2017
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosisAnkana Daga, Amar J Majmundar, Daniela A Braun, et al.
American Journal of Respiratory and Critical Care Medicine|February 27, 2014
Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotypeMichael R Knowles, Lawrence E Ostrowski, Margaret W Leigh, et al.
Nature Communications|February 25, 2016
FAT1 mutations cause a glomerulotubular nephropathyHeon Yung Gee, Carolin E Sadowski, Pardeep K Aggarwal, et al.
Pageof 11

Showing results (91-100 of 106) with videos related to

Sort By:
Pageof 11
Nature Communications|October 22, 2015
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilizationAlbane A Bizet, Anita Becker-Heck, Rebecca Ryan, et al.
American Journal of Human Genetics|January 17, 2017
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent NephronophthisisMaxence S Macia, Jan Halbritter, Marion Delous, et al.
Journal of Nephrology|January 30, 2025
The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney diseaseElhussein A E Elhassan, Kane E Collins, Sophia Heneghan, et al.
The Journal of Clinical Investigation|December 16, 2024
Disrupted uromodulin trafficking is rescued by targeting TMED cargo receptorsSilvana Bazua-Valenti, Matthew R Brown, Jason Zavras, et al.
American Journal of Human Genetics|May 19, 2023
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletionsRia Schönauer, Wenjun Jin, Christin Findeisen, et al.
Kidney International|March 1, 2022
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tractJohannes Münch, Marie Engesser, Ria Schönauer, et al.
Nature Genetics|June 25, 2013
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3Sylvia Hoff, Jan Halbritter, Daniel Epting, et al.
Kidney International|September 13, 2017
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosisAnkana Daga, Amar J Majmundar, Daniela A Braun, et al.
American Journal of Respiratory and Critical Care Medicine|February 27, 2014
Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotypeMichael R Knowles, Lawrence E Ostrowski, Margaret W Leigh, et al.
Nature Communications|February 25, 2016
FAT1 mutations cause a glomerulotubular nephropathyHeon Yung Gee, Carolin E Sadowski, Pardeep K Aggarwal, et al.
Pageof 11