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Carsten Bergmann

Showing results (211-220 of 228) with videos related to

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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.
Human Mutation|March 7, 2014
Mutations in the human UBR1 gene and the associated phenotypic spectrumMaja Sukalo, Ariane Fiedler, Celina Guzmán, et al.
The Journal of Pediatrics|May 14, 2018
Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney DiseaseKathrin Burgmaier, Kevin Kunzmann, Gema Ariceta, et al.
Kidney International|January 21, 2026
Genotype-phenotype characteristics and disease progression of FAN1-related karyomegalic tubulointerstitial nephropathyMichelle Clince, Elhussein A E Elhassan, Kendrah Kidd, et al.
Kidney International Reports|August 19, 2024
Renal and Extrarenal Phenotypes in Patients With <i>HNF1B</i> Variants and Chromosome 17q12 MicrodeletionsBénédicte Buffin-Meyer, Juliette Richard, Vincent Guigonis, et al.
Medrxiv : the Preprint Server for Health Sciences|March 30, 2023
Implication of <i>FOXD2</i> dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)Korbinian M Riedhammer, Thanh-Minh T Nguyen, Can Koşukcu, et al.
Nature Genetics|January 25, 2011
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrumErica E Davis, Qi Zhang, Qin Liu, et al.
HGG Advances|March 27, 2026
Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorderLauretta El Hayek, Ashlesha Gogate, Wei-Chen Chen, et al.
Nature Genetics|September 14, 2010
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathyEdgar A Otto, Toby W Hurd, Rannar Airik, et al.
Kidney International|December 28, 2023
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)Korbinian M Riedhammer, Thanh-Minh T Nguyen, Can Koşukcu, et al.
Pageof 23

Showing results (211-220 of 228) with videos related to

Sort By:
Pageof 23
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.
Human Mutation|March 7, 2014
Mutations in the human UBR1 gene and the associated phenotypic spectrumMaja Sukalo, Ariane Fiedler, Celina Guzmán, et al.
The Journal of Pediatrics|May 14, 2018
Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney DiseaseKathrin Burgmaier, Kevin Kunzmann, Gema Ariceta, et al.
Kidney International|January 21, 2026
Genotype-phenotype characteristics and disease progression of FAN1-related karyomegalic tubulointerstitial nephropathyMichelle Clince, Elhussein A E Elhassan, Kendrah Kidd, et al.
Kidney International Reports|August 19, 2024
Renal and Extrarenal Phenotypes in Patients With <i>HNF1B</i> Variants and Chromosome 17q12 MicrodeletionsBénédicte Buffin-Meyer, Juliette Richard, Vincent Guigonis, et al.
Medrxiv : the Preprint Server for Health Sciences|March 30, 2023
Implication of <i>FOXD2</i> dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)Korbinian M Riedhammer, Thanh-Minh T Nguyen, Can Koşukcu, et al.
Nature Genetics|January 25, 2011
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrumErica E Davis, Qi Zhang, Qin Liu, et al.
HGG Advances|March 27, 2026
Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorderLauretta El Hayek, Ashlesha Gogate, Wei-Chen Chen, et al.
Nature Genetics|September 14, 2010
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathyEdgar A Otto, Toby W Hurd, Rannar Airik, et al.
Kidney International|December 28, 2023
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)Korbinian M Riedhammer, Thanh-Minh T Nguyen, Can Koşukcu, et al.
Pageof 23