Divya Pachat
Kozhikode, KL, India
Last Updated: 09/26/2026
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Found 14 publications
Clinicodemographic and Genetic Profile of Children with Spinal Muscular Atrophy in Kerala, India: A Single-Center Experience.
Journal: Annals of Indian Academy of Neurology
Published: July 07, 2025
Reverse Phenotyping: Addressing Refractory Seizures From an Endocrine Perspective.
Journal: Cureus
Published: December 05, 2024
A nonsense mutation in the Tripartite motif containing 8 (TRIM8) gene, mimicking collagenopathy.
Journal: Pediatric nephrology (Berlin, Germany)
Published: October 02, 2024
Infantile nephrocalcinosis with chronic diarrhea.
Journal: Pediatric nephrology (Berlin, Germany)
Published: August 19, 2024
Thiamine-responsive megaloblastic anaemia.
Journal: The National medical journal of India
Published: May 17, 2024
Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome.
Journal: medRxiv : the preprint server for health sciences
Published: July 10, 2023
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
Journal: American journal of human genetics
Published: June 30, 2023
Profile of 208 patients with inborn errors of immunity at a tertiary care center in South India.
Journal: Clinical and experimental medicine
Published: June 01, 2023
Genome-Based Therapeutics: Era of Precision Medicine in Genetic Epilepsies and Epileptic Encephalopathies.
Journal: Annals of Indian Academy of Neurology
Published: April 11, 2023
Nasu-Hakola Disease - A Rare Type of Presenile Dementia.
Journal: Annals of Indian Academy of Neurology
Published: December 10, 2021
Allele-specific PCR and Next-generation sequencing based genetic screening for Congenital Adrenal Hyperplasia in India.
Journal: European journal of medical genetics
Published: August 10, 2021
FUS positive juvenile ALS-diagnostic and therapeutic insights from a 16-year-old female patient.
Journal: Acta neurologica Belgica
Published: May 14, 2021
Last Updated: 09/26/2026