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

Inusha Panigrahi

Showing results (151-160 of 159) with videos related to

Pageof 16
Sort By:
You have reached the last page of results.This site can display upto 159 results.
Clinical Genetics|February 20, 2024
Multi-gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasiasNaseebullah Kakar, Fazal Ur Rehman, Ramandeep Kaur, et al.
BMC Medical Genetics|February 16, 2019
Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutationJayesh Sheth, Riddhi Bhavsar, Mehul Mistri, et al.
Indian Journal of Pediatrics|July 7, 2026
Long-Term Outcomes of Enzyme Replacement Therapy in Indian Patients with Gaucher Disease - A Multicentric StudyNeerja Gupta, Devi Saranya S, Shashank Koundinya, et al.
Nature Genetics|May 10, 2016
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machineryMichinori Toriyama, Chanjae Lee, S Paige Taylor, et al.
Nature Genetics|July 28, 2016
Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machineryMichinori Toriyama, Chanjae Lee, S Paige Taylor, et al.
Orphanet Journal of Rare Diseases|January 28, 2026
Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicineJayesh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
Human Genomics|May 10, 2024
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in IndiaHarsh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
Orphanet Journal of Rare Diseases|August 13, 2024
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centreJayesh Sheth, Aadhira Nair, Frenny Sheth, et al.
Journal of Medical Genetics|March 15, 2017
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genesAnge-Line Bruel, Brunella Franco, Yannis Duffourd, et al.
Pageof 16

Showing results (151-160 of 159) with videos related to

Sort By:
Pageof 16
You have reached the last page of results.This site can display upto 159 results.
Clinical Genetics|February 20, 2024
Multi-gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasiasNaseebullah Kakar, Fazal Ur Rehman, Ramandeep Kaur, et al.
BMC Medical Genetics|February 16, 2019
Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutationJayesh Sheth, Riddhi Bhavsar, Mehul Mistri, et al.
Indian Journal of Pediatrics|July 7, 2026
Long-Term Outcomes of Enzyme Replacement Therapy in Indian Patients with Gaucher Disease - A Multicentric StudyNeerja Gupta, Devi Saranya S, Shashank Koundinya, et al.
Nature Genetics|May 10, 2016
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machineryMichinori Toriyama, Chanjae Lee, S Paige Taylor, et al.
Nature Genetics|July 28, 2016
Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machineryMichinori Toriyama, Chanjae Lee, S Paige Taylor, et al.
Orphanet Journal of Rare Diseases|January 28, 2026
Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicineJayesh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
Human Genomics|May 10, 2024
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in IndiaHarsh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
Orphanet Journal of Rare Diseases|August 13, 2024
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centreJayesh Sheth, Aadhira Nair, Frenny Sheth, et al.
Journal of Medical Genetics|March 15, 2017
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genesAnge-Line Bruel, Brunella Franco, Yannis Duffourd, et al.
Pageof 16