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Divya Pachat

Showing results (1-10 of 12) with videos related to

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Cureus|January 6, 2025
Reverse Phenotyping: Addressing Refractory Seizures From an Endocrine PerspectiveShijiya Sherin, Dhanya Soodhana, Smilu Mohanlal, et al.
Pediatric Nephrology (Berlin, Germany)|December 2, 2024
Infantile nephrocalcinosis with chronic diarrheaRehna K Rahman, Vinitha Vijaya Raghavan, Divya Pachat
The National Medical Journal of India|May 17, 2024
Thiamine-responsive megaloblastic anaemiaVimal Mavila Veetil, Divya Pachat, K Nikitha, et al.
Annals of Indian Academy of Neurology|April 9, 2026
Clinicodemographic and Genetic Profile of Children with Spinal Muscular Atrophy in Kerala, India: A Single-Center ExperienceHafsa, Smilu Mohanlal, P M Mubeena, et al.
Pediatric Nephrology (Berlin, Germany)|December 21, 2024
A nonsense mutation in the Tripartite motif containing 8 (TRIM8) gene, mimicking collagenopathyRehna K Rahman, Harisankar T, Smilu Mohanlal, et al.
Genetics Research International|April 13, 2016
Molecular Characterization of a Novel Germline VHL Mutation by Extensive In Silico Analysis in an Indian Family with Von Hippel-Lindau DiseaseGautham Arunachal, Divya Pachat, C George Priya Doss, et al.
Annals of Indian Academy of Neurology|November 29, 2023
Genome-Based Therapeutics: Era of Precision Medicine in Genetic Epilepsies and Epileptic EncephalopathiesAarthi Balaji, Smilu Mohanlal, Divya Pachat, et al.
Clinical and Experimental Medicine|October 29, 2023
Profile of 208 patients with inborn errors of immunity at a tertiary care center in South IndiaSagar Bhattad, Rachna S Mohite, Neha Singh, et al.
European Journal of Medical Genetics|October 31, 2021
Allele-specific PCR and Next-generation sequencing based genetic screening for Congenital Adrenal Hyperplasia in IndiaLavanya Ravichandran, Sophy Korula, H S Asha, et al.
Medrxiv : the Preprint Server for Health Sciences|July 10, 2023
Biallelic loss of function variants in <i>WBP4</i>, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndromeEden Engal, Kaisa Teele Oja, Reza Maroofian, et al.
Pageof 2

Showing results (1-10 of 12) with videos related to

Sort By:
Pageof 2
Cureus|January 6, 2025
Reverse Phenotyping: Addressing Refractory Seizures From an Endocrine PerspectiveShijiya Sherin, Dhanya Soodhana, Smilu Mohanlal, et al.
Pediatric Nephrology (Berlin, Germany)|December 2, 2024
Infantile nephrocalcinosis with chronic diarrheaRehna K Rahman, Vinitha Vijaya Raghavan, Divya Pachat
The National Medical Journal of India|May 17, 2024
Thiamine-responsive megaloblastic anaemiaVimal Mavila Veetil, Divya Pachat, K Nikitha, et al.
Annals of Indian Academy of Neurology|April 9, 2026
Clinicodemographic and Genetic Profile of Children with Spinal Muscular Atrophy in Kerala, India: A Single-Center ExperienceHafsa, Smilu Mohanlal, P M Mubeena, et al.
Pediatric Nephrology (Berlin, Germany)|December 21, 2024
A nonsense mutation in the Tripartite motif containing 8 (TRIM8) gene, mimicking collagenopathyRehna K Rahman, Harisankar T, Smilu Mohanlal, et al.
Genetics Research International|April 13, 2016
Molecular Characterization of a Novel Germline VHL Mutation by Extensive In Silico Analysis in an Indian Family with Von Hippel-Lindau DiseaseGautham Arunachal, Divya Pachat, C George Priya Doss, et al.
Annals of Indian Academy of Neurology|November 29, 2023
Genome-Based Therapeutics: Era of Precision Medicine in Genetic Epilepsies and Epileptic EncephalopathiesAarthi Balaji, Smilu Mohanlal, Divya Pachat, et al.
Clinical and Experimental Medicine|October 29, 2023
Profile of 208 patients with inborn errors of immunity at a tertiary care center in South IndiaSagar Bhattad, Rachna S Mohite, Neha Singh, et al.
European Journal of Medical Genetics|October 31, 2021
Allele-specific PCR and Next-generation sequencing based genetic screening for Congenital Adrenal Hyperplasia in IndiaLavanya Ravichandran, Sophy Korula, H S Asha, et al.
Medrxiv : the Preprint Server for Health Sciences|July 10, 2023
Biallelic loss of function variants in <i>WBP4</i>, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndromeEden Engal, Kaisa Teele Oja, Reza Maroofian, et al.
Pageof 2