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Mythily Ganapathi

Showing results (21-30 of 50) with videos related to

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JBMR Plus|March 30, 2026
Impaired bone matrix turnover with selective small bone fragility in a child with <i>TENT5A</i>-associated osteogenesis imperfectaAlex Guo, Cara Tillotson, Cecilia Sena, et al.
Frontiers in Genetics|August 5, 2022
Case Report: Prenatal Identification of a <i>De Novo</i> Mosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected GirlAvinash V Dharmadhikari, Elaine M Pereira, Carli C Andrews, et al.
Cold Spring Harbor Molecular Case Studies|October 31, 2022
A novel biallelic loss-of-function variant in <i>DAND5</i> causes heterotaxy syndromeMythily Ganapathi, Christie M Buchovecky, Fernando Cristo, et al.
American Journal of Medical Genetics. Part A|September 29, 2021
Bi-allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two familiesHagit Daum, Mythily Ganapathi, Yoel Hirsch, et al.
European Journal of Medical Genetics|August 29, 2024
Biallelic potential disease-causing missense variants in TAF1A in two siblings with infantile restrictive cardiomyopathyNan Jiang, Wenyuan Xu, Aliaa Abdelhakim, et al.
Science (New York, N.Y.)|August 28, 2025
Machine learning-based penetrance of genetic variantsIain S Forrest, Ha My T Vy, Ghislain Rocheleau, et al.
Clinical Kidney Journal|August 5, 2024
Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delayWillem Bosman, Kameryn M Butler, Caitlin A Chang, et al.
Annals of Neurology|September 8, 2022
De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic NeurotransmissionKonrad Platzer, Heinrich Sticht, Caleb Bupp, et al.
American Journal of Medical Genetics. Part A|September 24, 2017
Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient seriesAnya Revah-Politi, Mythily Ganapathi, Louise Bier, et al.
The Journal of Molecular Diagnostics : JMD|July 20, 2024
Multisite Evaluation and Validation of Optical Genome Mapping for Prenatal Genetic TestingBrynn Levy, Jie Liu, M Anwar Iqbal, et al.
Pageof 5

Showing results (21-30 of 50) with videos related to

Sort By:
Pageof 5
JBMR Plus|March 30, 2026
Impaired bone matrix turnover with selective small bone fragility in a child with <i>TENT5A</i>-associated osteogenesis imperfectaAlex Guo, Cara Tillotson, Cecilia Sena, et al.
Frontiers in Genetics|August 5, 2022
Case Report: Prenatal Identification of a <i>De Novo</i> Mosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected GirlAvinash V Dharmadhikari, Elaine M Pereira, Carli C Andrews, et al.
Cold Spring Harbor Molecular Case Studies|October 31, 2022
A novel biallelic loss-of-function variant in <i>DAND5</i> causes heterotaxy syndromeMythily Ganapathi, Christie M Buchovecky, Fernando Cristo, et al.
American Journal of Medical Genetics. Part A|September 29, 2021
Bi-allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two familiesHagit Daum, Mythily Ganapathi, Yoel Hirsch, et al.
European Journal of Medical Genetics|August 29, 2024
Biallelic potential disease-causing missense variants in TAF1A in two siblings with infantile restrictive cardiomyopathyNan Jiang, Wenyuan Xu, Aliaa Abdelhakim, et al.
Science (New York, N.Y.)|August 28, 2025
Machine learning-based penetrance of genetic variantsIain S Forrest, Ha My T Vy, Ghislain Rocheleau, et al.
Clinical Kidney Journal|August 5, 2024
Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delayWillem Bosman, Kameryn M Butler, Caitlin A Chang, et al.
Annals of Neurology|September 8, 2022
De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic NeurotransmissionKonrad Platzer, Heinrich Sticht, Caleb Bupp, et al.
American Journal of Medical Genetics. Part A|September 24, 2017
Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient seriesAnya Revah-Politi, Mythily Ganapathi, Louise Bier, et al.
The Journal of Molecular Diagnostics : JMD|July 20, 2024
Multisite Evaluation and Validation of Optical Genome Mapping for Prenatal Genetic TestingBrynn Levy, Jie Liu, M Anwar Iqbal, et al.
Pageof 5