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2024

Haplotype analysis detects MLH1 founder variant in Indian Lynch syndrome patient cohort.

April 5, 2025

A Homozygous Nonsense Variant in the BICC1 Gene Associated With Fetal Cystic Kidney Disease and Lower Limb Post-Axial Polydactyly

April 5, 2025

Child with KBG syndrome

December 16, 2024

Progressive Supranuclear Palsy in India: Past, Present, and Future

December 16, 2024

Activating STAT3 mutations in CD8+ T-cells correlate to serological positivity in rheumatoid arthritis

December 10, 2024

Isolated Lateralized Overgrowth – Phenotypic Spectrum and Molecular Alterations

December 10, 2024

High rate of detected variants in male PLCZ1 and ACTL7A genes causing failed fertilization after ICSI

December 10, 2024

KBG Syndrome in 16 Indian Individuals

December 10, 2024

Movement disorders in Megalencephalic Leukoencephalopathy with subcortical cysts – A case series

December 10, 2024

Spectrum of Alport syndrome in an Indian cohort

September 17, 2024
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