Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Arya Shambhavi

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

Pageof 1
Sort By:
Journal of Community Genetics|March 25, 2026
Stigma: an inherited blameArya Shambhavi, Pragya Kafley
Journal of Genetic Counseling|March 20, 2025
Understanding and issues related to next-generation sequencing among educated laypersons in IndiaArya Shambhavi, Amita Moirangthem, Prabhaker Mishra, et al.
Indian Journal of Pediatrics|June 19, 2023
Complex Hereditary Spastic Paraparesis Caused by de novo p.Arg480Ser in FAR1Arya Shambhavi, Amita Moirangthem, Manmohan Pandey, et al.
American Journal of Medical Genetics. Part A|December 18, 2022
T2 olivary nuclei hyperintensities: A characteristic neuroimaging finding in FIG4-related leukoencephalopathyHaseena Sait, Arya Shambhavi, Manmohan Pandey, et al.
Clinical Genetics|April 30, 2025
Spectrum of Inherited Childhood-Onset Dystonia: Case Series of 19 Families With Genotype and Phenotype Characterization Highlighting the Treatable CausesNaik Adarsha, Arya Shambhavi, Haseena Sait, et al.
Clinical Dysmorphology|November 30, 2021
Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variantsAmita Moirangthem, Deepti Saxena, Suzena Masih, et al.
American Journal of Medical Genetics. Part A|May 4, 2021
Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North IndiaAmita Moirangthem, Kausik Mandal, Deepti Saxena, et al.
Journal of Pediatric Genetics|February 15, 2018
Pycnodysostosis: Novel Variants in <i>CTSK</i> and Occurrence of Giant Cell TumorArya Shambhavi, Smrithi Salian, Hitesh Shah, et al.
European Journal of Medical Genetics|May 14, 2022
Deciphering the molecular landscape of microcephaly in 87 Indian families by exome sequencingSuzena Masih, Amita Moirangthem, Arya Shambhavi, et al.
Neurogenetics|February 15, 2023
Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian familiesHaseena Sait, Somya Srivastava, Manmohan Pandey, et al.
Pageof 1

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

Sort By:
Pageof 1
Journal of Community Genetics|March 25, 2026
Stigma: an inherited blameArya Shambhavi, Pragya Kafley
Journal of Genetic Counseling|March 20, 2025
Understanding and issues related to next-generation sequencing among educated laypersons in IndiaArya Shambhavi, Amita Moirangthem, Prabhaker Mishra, et al.
Indian Journal of Pediatrics|June 19, 2023
Complex Hereditary Spastic Paraparesis Caused by de novo p.Arg480Ser in FAR1Arya Shambhavi, Amita Moirangthem, Manmohan Pandey, et al.
American Journal of Medical Genetics. Part A|December 18, 2022
T2 olivary nuclei hyperintensities: A characteristic neuroimaging finding in FIG4-related leukoencephalopathyHaseena Sait, Arya Shambhavi, Manmohan Pandey, et al.
Clinical Genetics|April 30, 2025
Spectrum of Inherited Childhood-Onset Dystonia: Case Series of 19 Families With Genotype and Phenotype Characterization Highlighting the Treatable CausesNaik Adarsha, Arya Shambhavi, Haseena Sait, et al.
Clinical Dysmorphology|November 30, 2021
Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variantsAmita Moirangthem, Deepti Saxena, Suzena Masih, et al.
American Journal of Medical Genetics. Part A|May 4, 2021
Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North IndiaAmita Moirangthem, Kausik Mandal, Deepti Saxena, et al.
Journal of Pediatric Genetics|February 15, 2018
Pycnodysostosis: Novel Variants in <i>CTSK</i> and Occurrence of Giant Cell TumorArya Shambhavi, Smrithi Salian, Hitesh Shah, et al.
European Journal of Medical Genetics|May 14, 2022
Deciphering the molecular landscape of microcephaly in 87 Indian families by exome sequencingSuzena Masih, Amita Moirangthem, Arya Shambhavi, et al.
Neurogenetics|February 15, 2023
Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian familiesHaseena Sait, Somya Srivastava, Manmohan Pandey, et al.
Pageof 1