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Shagun Aggarwal

Showing results (61-70 of 71) with videos related to

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Journal of Neurochemistry|October 22, 2020
Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerizationYingzhou Edward Pan, Debora Tibbe, Frederike Leonie Harms, et al.
Prenatal Diagnosis|August 16, 2025
A Decade of Prenatal Genetic Diagnostics: Insights From 1949 Cases at a Medical Genetics Facility in South IndiaRoopadarshini Balasubramanian, Prathyusha Koneru, Harika Patnaik Chinchilam, et al.
European Journal of Medical Genetics|February 21, 2023
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited settingRayabarapu Pranav Chand, Wankhede Vinit, Varsha Vaidya, et al.
American Journal of Medical Genetics. Part A|June 25, 2016
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick diseasePrajnya Ranganath, Divya Matta, Gandham SriLakshmi Bhavani, et al.
Journal of Human Genetics|July 12, 2020
Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type IIIDivya Pasumarthi, Neerja Gupta, Jayesh Sheth, et al.
Human Mutation|July 17, 2021
Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiencyDipti Deshpande, Shailesh Kumar Gupta, Asodu Sandeep Sarma, et al.
American Journal of Medical Genetics. Part A|May 20, 2015
Novel and recurrent mutations in WISP3 and an atypical phenotypeGandham SriLakshmi Bhavani, Hitesh Shah, Ashwin B Dalal, et al.
Prenatal Diagnosis|December 6, 2023
Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysisGillian V Blayney, Eoghan Laffan, Preethi A Jacob, et al.
Gene|May 5, 2015
Recurrent and novel GLB1 mutations in IndiaAbdul Mueed Bidchol, Ashwin Dalal, Rakesh Trivedi, et al.
Indian Journal of Pediatrics|March 23, 2026
Experience of Prenatal Diagnosis for β-Thalassemia and Major Hemoglobinopathies in the Last Decade from Seven Tertiary-Care Referral Centers in IndiaReena Das, Anita Nadkarni, Sudha Kohli, et al.
Pageof 8

Showing results (61-70 of 71) with videos related to

Sort By:
Pageof 8
Journal of Neurochemistry|October 22, 2020
Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerizationYingzhou Edward Pan, Debora Tibbe, Frederike Leonie Harms, et al.
Prenatal Diagnosis|August 16, 2025
A Decade of Prenatal Genetic Diagnostics: Insights From 1949 Cases at a Medical Genetics Facility in South IndiaRoopadarshini Balasubramanian, Prathyusha Koneru, Harika Patnaik Chinchilam, et al.
European Journal of Medical Genetics|February 21, 2023
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited settingRayabarapu Pranav Chand, Wankhede Vinit, Varsha Vaidya, et al.
American Journal of Medical Genetics. Part A|June 25, 2016
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick diseasePrajnya Ranganath, Divya Matta, Gandham SriLakshmi Bhavani, et al.
Journal of Human Genetics|July 12, 2020
Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type IIIDivya Pasumarthi, Neerja Gupta, Jayesh Sheth, et al.
Human Mutation|July 17, 2021
Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiencyDipti Deshpande, Shailesh Kumar Gupta, Asodu Sandeep Sarma, et al.
American Journal of Medical Genetics. Part A|May 20, 2015
Novel and recurrent mutations in WISP3 and an atypical phenotypeGandham SriLakshmi Bhavani, Hitesh Shah, Ashwin B Dalal, et al.
Prenatal Diagnosis|December 6, 2023
Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysisGillian V Blayney, Eoghan Laffan, Preethi A Jacob, et al.
Gene|May 5, 2015
Recurrent and novel GLB1 mutations in IndiaAbdul Mueed Bidchol, Ashwin Dalal, Rakesh Trivedi, et al.
Indian Journal of Pediatrics|March 23, 2026
Experience of Prenatal Diagnosis for β-Thalassemia and Major Hemoglobinopathies in the Last Decade from Seven Tertiary-Care Referral Centers in IndiaReena Das, Anita Nadkarni, Sudha Kohli, et al.
Pageof 8