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Swetha Ramadesikan

Showing results (1-10 of 20) with videos related to

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International Review of Cell and Molecular Biology|May 27, 2015
Role of Ocrl1 in primary cilia assemblyKayalvizhi Madhivanan, Swetha Ramadesikan, R Claudio Aguilar
Plos One|February 15, 2018
Kidney-differentiated cells derived from Lowe Syndrome patient's iPSCs show ciliogenesis defects and Six2 retention at the Golgi complexWen-Chieh Hsieh, Swetha Ramadesikan, Donna Fekete, et al.
Human Molecular Genetics|May 12, 2020
Lowe syndrome patient cells display mTOR- and RhoGTPase-dependent phenotypes alleviated by rapamycin and statinsKayalvizhi Madhivanan, Swetha Ramadesikan, Wen-Chieh Hsieh, et al.
Cold Spring Harbor Molecular Case Studies|October 10, 2023
Novel inherited <i>CDX2</i> variant segregating in a family with diverse congenital malformations of the genitourinary systemSwetha Ramadesikan, Caitlyn M Colwell, Rachel Supinger, et al.
Neuromuscular Disorders : NMD|June 28, 2025
Like father, like son: RNA-sequencing from a 30-year-old muscle biopsy identifies a novel splice variant in ACTA1 as the cause of an attenuated nemaline myopathy phenotypeAlayne P Meyer, Sana Yousfi, Stefan Nicolau, et al.
American Journal of Medical Genetics. Part A|August 7, 2025
Novel Intragenic Duplication of GATAD2B in a Patient With GANDMari Mori, Steven Estes, Swetha Ramadesikan, et al.
Human Molecular Genetics|January 31, 2021
Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypesSwetha Ramadesikan, Lisette Skiba, Jennifer Lee, et al.
Frontiers in Genetics|February 2, 2024
Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature reviewUmamaheswaran Gurusamy, Swetha Ramadesikan, Mohammad Marhabaie, et al.
Biomolecules|May 16, 2023
Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular PhenotypesJennifer J Lee, Swetha Ramadesikan, Adrianna F Black, et al.
Cold Spring Harbor Molecular Case Studies|January 29, 2022
Biallelic <i>SEPSECS</i> variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in diseaseSwetha Ramadesikan, Scott Hickey, Emily De Los Reyes, et al.
Pageof 2

Showing results (1-10 of 20) with videos related to

Sort By:
Pageof 2
International Review of Cell and Molecular Biology|May 27, 2015
Role of Ocrl1 in primary cilia assemblyKayalvizhi Madhivanan, Swetha Ramadesikan, R Claudio Aguilar
Plos One|February 15, 2018
Kidney-differentiated cells derived from Lowe Syndrome patient's iPSCs show ciliogenesis defects and Six2 retention at the Golgi complexWen-Chieh Hsieh, Swetha Ramadesikan, Donna Fekete, et al.
Human Molecular Genetics|May 12, 2020
Lowe syndrome patient cells display mTOR- and RhoGTPase-dependent phenotypes alleviated by rapamycin and statinsKayalvizhi Madhivanan, Swetha Ramadesikan, Wen-Chieh Hsieh, et al.
Cold Spring Harbor Molecular Case Studies|October 10, 2023
Novel inherited <i>CDX2</i> variant segregating in a family with diverse congenital malformations of the genitourinary systemSwetha Ramadesikan, Caitlyn M Colwell, Rachel Supinger, et al.
Neuromuscular Disorders : NMD|June 28, 2025
Like father, like son: RNA-sequencing from a 30-year-old muscle biopsy identifies a novel splice variant in ACTA1 as the cause of an attenuated nemaline myopathy phenotypeAlayne P Meyer, Sana Yousfi, Stefan Nicolau, et al.
American Journal of Medical Genetics. Part A|August 7, 2025
Novel Intragenic Duplication of GATAD2B in a Patient With GANDMari Mori, Steven Estes, Swetha Ramadesikan, et al.
Human Molecular Genetics|January 31, 2021
Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypesSwetha Ramadesikan, Lisette Skiba, Jennifer Lee, et al.
Frontiers in Genetics|February 2, 2024
Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature reviewUmamaheswaran Gurusamy, Swetha Ramadesikan, Mohammad Marhabaie, et al.
Biomolecules|May 16, 2023
Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular PhenotypesJennifer J Lee, Swetha Ramadesikan, Adrianna F Black, et al.
Cold Spring Harbor Molecular Case Studies|January 29, 2022
Biallelic <i>SEPSECS</i> variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in diseaseSwetha Ramadesikan, Scott Hickey, Emily De Los Reyes, et al.
Pageof 2