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Neerja Gupta

Showing results (201-210 of 238) with videos related to

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Annals of Indian Academy of Neurology|April 11, 2026
Intersection of Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy Syndrome: ASAH1 GeneFarsana Mustafa, Shariq Sha, Wiliam L Macken, et al.
Mitochondrion|January 18, 2024
Whole genome sequencing followed by functional analysis of genomic deletion encompassing ERCC8 and NDUFAF2 genes in a non-consanguineous Indian family reveals dysfunctional mitochondrial bioenergetics leading to infant mortalityAnkit Sabharwal, Vishu Gupta, Shamsudheen Kv, et al.
Journal of Cellular Biochemistry|October 17, 2013
Splice, insertion-deletion and nonsense mutations that perturb the phenylalanine hydroxylase transcript cause phenylketonuria in IndiaMurali D Bashyam, Ajay K Chaudhary, Manjari Kiran, et al.
American Journal of Medical Genetics. Part A|December 4, 2021
Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in IndiaAjay Kumar Chaudhary, Aishwarya Gholse, Hampapathalu Adimurthy Nagarajaram, et al.
Neuromuscular Disorders : NMD|March 20, 2021
Late onset Pompe Disease in India - Beyond the Caucasian phenotypeRatna Dua Puri, Nitika Setia, Vinu N, et al.
Journal of Pediatric Genetics|December 1, 2021
Mutation Spectrum of Tuberous Sclerosis Complex Patients in Indian PopulationShruthi Sudarshan, Atin Kumar, Arun Gupta, et al.
Respiratory Medicine|April 6, 2025
Diagnostic accuracy of ancillary tests in diagnosis of cystic fibrosis and development of cystic fibrosis clinical diagnostic score: A multicentre prospective cohort studyNitin Dhochak, Rakesh Lodha, Kana Ram Jat, et al.
Rheumatology (Oxford, England)|September 11, 2024
Clinical spectrum of and outcomes for Indian children with deficiency of adenosine deaminase 2 (DADA2): a multicentric studySathish Kumar, Akagri Chugh, Samantha Cheryl Kumar, et al.
Human Mutation|January 27, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in IndiansNeethukrishna Kausthubham, Anju Shukla, Neerja Gupta, et al.
Gene|November 7, 2025
Profile of cystic fibrosis transmembrane conductance regulator (CFTR) gene variants across India and their variability in different geographic regionsMadhumita Roy Chowdhury, Indu Kumari, Kana Ram Jat, et al.
Pageof 24

Showing results (201-210 of 238) with videos related to

Sort By:
Pageof 24
Annals of Indian Academy of Neurology|April 11, 2026
Intersection of Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy Syndrome: ASAH1 GeneFarsana Mustafa, Shariq Sha, Wiliam L Macken, et al.
Mitochondrion|January 18, 2024
Whole genome sequencing followed by functional analysis of genomic deletion encompassing ERCC8 and NDUFAF2 genes in a non-consanguineous Indian family reveals dysfunctional mitochondrial bioenergetics leading to infant mortalityAnkit Sabharwal, Vishu Gupta, Shamsudheen Kv, et al.
Journal of Cellular Biochemistry|October 17, 2013
Splice, insertion-deletion and nonsense mutations that perturb the phenylalanine hydroxylase transcript cause phenylketonuria in IndiaMurali D Bashyam, Ajay K Chaudhary, Manjari Kiran, et al.
American Journal of Medical Genetics. Part A|December 4, 2021
Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in IndiaAjay Kumar Chaudhary, Aishwarya Gholse, Hampapathalu Adimurthy Nagarajaram, et al.
Neuromuscular Disorders : NMD|March 20, 2021
Late onset Pompe Disease in India - Beyond the Caucasian phenotypeRatna Dua Puri, Nitika Setia, Vinu N, et al.
Journal of Pediatric Genetics|December 1, 2021
Mutation Spectrum of Tuberous Sclerosis Complex Patients in Indian PopulationShruthi Sudarshan, Atin Kumar, Arun Gupta, et al.
Respiratory Medicine|April 6, 2025
Diagnostic accuracy of ancillary tests in diagnosis of cystic fibrosis and development of cystic fibrosis clinical diagnostic score: A multicentre prospective cohort studyNitin Dhochak, Rakesh Lodha, Kana Ram Jat, et al.
Rheumatology (Oxford, England)|September 11, 2024
Clinical spectrum of and outcomes for Indian children with deficiency of adenosine deaminase 2 (DADA2): a multicentric studySathish Kumar, Akagri Chugh, Samantha Cheryl Kumar, et al.
Human Mutation|January 27, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in IndiansNeethukrishna Kausthubham, Anju Shukla, Neerja Gupta, et al.
Gene|November 7, 2025
Profile of cystic fibrosis transmembrane conductance regulator (CFTR) gene variants across India and their variability in different geographic regionsMadhumita Roy Chowdhury, Indu Kumari, Kana Ram Jat, et al.
Pageof 24