All Stories

  1. Host genomics of COVID-19: Evidence point towards Alpha 1 antitrypsin deficiency as a putative risk factor for higher mortality rate
  2. A study of Mutation in ATP7B gene and its correlation with clinical phenotype and radiological features in Wilson Disease patients
  3. Charcot-Marie-Tooth disease type 4J with spastic quadriplegia, epilepsy and global developmental delay: a tale of three siblings
  4. Zinc and COVID-19: Basis of Current Clinical Trials
  5. The transition from objectively structured practical examination (OSPE) to electronic OSPE in the era of COVID ‐19
  6. Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India
  7. Schuurs-Hoeijmakers syndrome in a patient from India
  8. Promises and pitfalls of NGS technology in Clinic: Experience from Kolkata
  9. De Barsy syndrome type B presenting with cardiac and genitourinary abnormalities
  10. Restrictive Dermopathy
  11. The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia
  12. Genetic analysis of consanguineous families presenting with congenital ocular defects
  13. “Eye of tiger sign” mimic in an adolescent boy with mitochondrial membrane protein associated neurodegeneration (MPAN)
  14. Recurrent truncating mutations in alanine-glyoxylate aminotransferase gene in two South Indian families with primary hyperoxaluria type 1 causing later onset end-stage kidney disease
  15. Adiponutrin (PNPLA3) in liver fibrogenesis: Is unaltered HepG2 cell line a better model system compared to murine models?
  16. Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population
  17. Genetic factors affecting susceptibility to alcoholic liver disease in an Indian population
  18. A Curious Case of Hyperbilirubinemia
  19. webmedcentral
  20. webmedcentral