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Aadhira Nair

Showing results (1-10 of 14) with videos related to

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Current Pharmaceutical Design|October 16, 2020
Treatment for Lysosomal Storage DisordersJayesh Sheth, Aadhira Nair
The Lancet Regional Health. Southeast Asia|June 29, 2023
Lysosomal storage disorders: from biology to the clinic with reference to IndiaJayesh Sheth, Aadhira Nair, Babban Jee
Frontiers in Genetics|October 15, 2021
Case Report: Recurrent Variant c.298 TA in <i>CCN6</i> Gene Found in Progressive Pseudorheumatoid Dysplasia Patients From Patni Community of Gujarat: A Report of Three CasesHarsh Sheth, Jhanvi Shah, Aadhira Nair, et al.
BMC Pediatrics|February 4, 2022
An ultra-rare case of immunoskeletal dysplasia with neurodevelopmental abnormalities in an Indian patient with homozygous c.953C > T variant in EXTL3 gene: a case reportShruti Bajaj, Purnima Satoskar, Aadhira Nair, et al.
BMC Genomics|June 21, 2022
The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndromeHarsh Sheth, Premal Naik, Maulin Shah, et al.
JIMD Reports|July 5, 2023
Late infantile and adult-onset metachromatic leukodystrophy due to novel missense variants in the <i>PSAP</i> gene: Case report from IndiaJayesh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
Stem Cell Reviews and Reports|January 9, 2025
'Nomadic' Hematopoietic Stem Cells Navigate the Embryonic LandscapeAnand Badhri Narayan, Senthil Kumar Hariom, Ayan Prasad Mukherjee, et al.
BMC Pediatrics|March 24, 2023
Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and reviewJayesh Sheth, Siddharth Shah, Chaitanya Datar, et al.
JIMD Reports|March 6, 2024
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literatureJayesh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
BMC Pediatrics|June 27, 2026
Clinical, biochemical and molecular spectrum of acute neuronopathic type 2 Gaucher disease from IndiaJayesh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
Pageof 2

Showing results (1-10 of 14) with videos related to

Sort By:
Pageof 2
Current Pharmaceutical Design|October 16, 2020
Treatment for Lysosomal Storage DisordersJayesh Sheth, Aadhira Nair
The Lancet Regional Health. Southeast Asia|June 29, 2023
Lysosomal storage disorders: from biology to the clinic with reference to IndiaJayesh Sheth, Aadhira Nair, Babban Jee
Frontiers in Genetics|October 15, 2021
Case Report: Recurrent Variant c.298 TA in <i>CCN6</i> Gene Found in Progressive Pseudorheumatoid Dysplasia Patients From Patni Community of Gujarat: A Report of Three CasesHarsh Sheth, Jhanvi Shah, Aadhira Nair, et al.
BMC Pediatrics|February 4, 2022
An ultra-rare case of immunoskeletal dysplasia with neurodevelopmental abnormalities in an Indian patient with homozygous c.953C > T variant in EXTL3 gene: a case reportShruti Bajaj, Purnima Satoskar, Aadhira Nair, et al.
BMC Genomics|June 21, 2022
The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndromeHarsh Sheth, Premal Naik, Maulin Shah, et al.
JIMD Reports|July 5, 2023
Late infantile and adult-onset metachromatic leukodystrophy due to novel missense variants in the <i>PSAP</i> gene: Case report from IndiaJayesh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
Stem Cell Reviews and Reports|January 9, 2025
'Nomadic' Hematopoietic Stem Cells Navigate the Embryonic LandscapeAnand Badhri Narayan, Senthil Kumar Hariom, Ayan Prasad Mukherjee, et al.
BMC Pediatrics|March 24, 2023
Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and reviewJayesh Sheth, Siddharth Shah, Chaitanya Datar, et al.
JIMD Reports|March 6, 2024
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literatureJayesh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
BMC Pediatrics|June 27, 2026
Clinical, biochemical and molecular spectrum of acute neuronopathic type 2 Gaucher disease from IndiaJayesh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
Pageof 2