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Laura Massella

Showing results (51-60 of 58) with videos related to

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Kidney International|May 3, 2021
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variantsKathrin Burgmaier, Leonie Brinker, Florian Erger, et al.
Clinical Journal of the American Society of Nephrology : CJASN|December 21, 2021
Guidelines for Genetic Testing and Management of Alport SyndromeJudy Savige, Beata S Lipska-Zietkiewicz, Elizabeth Watson, et al.
European Journal of Human Genetics : EJHG|January 31, 2023
Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteriaJudy Savige, Helen Storey, Elizabeth Watson, et al.
European Journal of Human Genetics : EJHG|April 15, 2021
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteriaJudy Savige, Helen Storey, Elizabeth Watson, 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.
Orphanet Journal of Rare Diseases|September 25, 2012
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?Marie Morimoto, Zhongxin Yu, Peter Stenzel, 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.
Kidney International|March 23, 2025
Insights from ADPedKD, ERKReg and RaDaR registries provide a multi-national perspective on the presentation of childhood autosomal dominant polycystic kidney disease in high- and middle-income countriesCharlotte Gimpel, Steffen Fieuws, Jonas Hofstetter, et al.
Pageof 6

Showing results (51-60 of 58) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 58 results.
Kidney International|May 3, 2021
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variantsKathrin Burgmaier, Leonie Brinker, Florian Erger, et al.
Clinical Journal of the American Society of Nephrology : CJASN|December 21, 2021
Guidelines for Genetic Testing and Management of Alport SyndromeJudy Savige, Beata S Lipska-Zietkiewicz, Elizabeth Watson, et al.
European Journal of Human Genetics : EJHG|January 31, 2023
Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteriaJudy Savige, Helen Storey, Elizabeth Watson, et al.
European Journal of Human Genetics : EJHG|April 15, 2021
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteriaJudy Savige, Helen Storey, Elizabeth Watson, 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.
Orphanet Journal of Rare Diseases|September 25, 2012
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?Marie Morimoto, Zhongxin Yu, Peter Stenzel, 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.
Kidney International|March 23, 2025
Insights from ADPedKD, ERKReg and RaDaR registries provide a multi-national perspective on the presentation of childhood autosomal dominant polycystic kidney disease in high- and middle-income countriesCharlotte Gimpel, Steffen Fieuws, Jonas Hofstetter, et al.
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