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Simone Sanna-Cherchi

Showing results (71-80 of 93) with videos related to

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JAMA Network Open|March 11, 2026
Precision Diagnosis in APOL1 Kidney Disease With the p.N264K M1 Protective VariantElena Martinelli, Juntao Ke, Atlas Khan, et al.
Plos Genetics|June 28, 2012
Geographic differences in genetic susceptibility to IgA nephropathy: GWAS replication study and geospatial risk analysisKrzysztof Kiryluk, Yifu Li, Simone Sanna-Cherchi, et al.
The New England Journal of Medicine|July 19, 2013
Mutations in DSTYK and dominant urinary tract malformationsSimone Sanna-Cherchi, Rosemary V Sampogna, Natalia Papeta, et al.
The New England Journal of Medicine|December 27, 2018
Diagnostic Utility of Exome Sequencing for Kidney DiseaseEmily E Groopman, Maddalena Marasa, Sophia Cameron-Christie, et al.
American Journal of Human Genetics|November 4, 2017
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney MalformationsSimone Sanna-Cherchi, Kamal Khan, Rik Westland, et al.
American Journal of Human Genetics|November 20, 2012
Copy-number disorders are a common cause of congenital kidney malformationsSimone Sanna-Cherchi, Krzysztof Kiryluk, Katelyn E Burgess, et al.
Nature Communications|April 29, 2023
Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndromeAlexandra Barry, Michelle T McNulty, Xiaoyuan Jia, et al.
Journal of the American Society of Nephrology : JASN|August 26, 2018
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary TractAmelie T van der Ven, Dervla M Connaughton, Hadas Ityel, et al.
Science (New York, N.Y.)|May 2, 2024
Risk of meningomyelocele mediated by the common 22q11.2 deletionKeng Ioi Vong, Sangmoon Lee, Kit Sing Au, et al.
American Journal of Human Genetics|January 28, 2021
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosisPatricia L Weng, Amar J Majmundar, Kamal Khan, et al.
Pageof 10

Showing results (71-80 of 93) with videos related to

Sort By:
Pageof 10
JAMA Network Open|March 11, 2026
Precision Diagnosis in APOL1 Kidney Disease With the p.N264K M1 Protective VariantElena Martinelli, Juntao Ke, Atlas Khan, et al.
Plos Genetics|June 28, 2012
Geographic differences in genetic susceptibility to IgA nephropathy: GWAS replication study and geospatial risk analysisKrzysztof Kiryluk, Yifu Li, Simone Sanna-Cherchi, et al.
The New England Journal of Medicine|July 19, 2013
Mutations in DSTYK and dominant urinary tract malformationsSimone Sanna-Cherchi, Rosemary V Sampogna, Natalia Papeta, et al.
The New England Journal of Medicine|December 27, 2018
Diagnostic Utility of Exome Sequencing for Kidney DiseaseEmily E Groopman, Maddalena Marasa, Sophia Cameron-Christie, et al.
American Journal of Human Genetics|November 4, 2017
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney MalformationsSimone Sanna-Cherchi, Kamal Khan, Rik Westland, et al.
American Journal of Human Genetics|November 20, 2012
Copy-number disorders are a common cause of congenital kidney malformationsSimone Sanna-Cherchi, Krzysztof Kiryluk, Katelyn E Burgess, et al.
Nature Communications|April 29, 2023
Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndromeAlexandra Barry, Michelle T McNulty, Xiaoyuan Jia, et al.
Journal of the American Society of Nephrology : JASN|August 26, 2018
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary TractAmelie T van der Ven, Dervla M Connaughton, Hadas Ityel, et al.
Science (New York, N.Y.)|May 2, 2024
Risk of meningomyelocele mediated by the common 22q11.2 deletionKeng Ioi Vong, Sangmoon Lee, Kit Sing Au, et al.
American Journal of Human Genetics|January 28, 2021
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosisPatricia L Weng, Amar J Majmundar, Kamal Khan, et al.
Pageof 10