Author

Ruchi Agrawal

2 papers indexed here

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Review Oct 2026

B-309 Codon 84 as a Potential Molecular Hotspot: Germline VHL p.Val84Met Presenting as Isolated Bilateral Pheochromocytoma

Von Hippel–Lindau disease (VHL) is an autosomal dominant cancer predisposition syndrome caused by pathogenic variants in the VHL gene, leading to impaired degradation of hypoxia-inducible factor (HIF) and dysregulated angiogenic signaling. Missense variants are commonly associated with pheochromocytoma-predominan...

O. Abdelkarem, M. Alam, M. Bhat et al. · Clinical Chemistry · 0 citations

Open access Sep 2026

Novel genetic variants associated with premature ovarian insufficiency: A case series

Premature ovarian insufficiency (POI), characterised by the cessation of normal ovarian function before the age of 40 years, is a recognised cause of infertility and long-term metabolic and cardiovascular morbidity, with many non-chromosomal cases remaining unexplained. Increasing evidence implicates genes involved i...

M. Alam, Basharat Dar, M. Bhat et al. · Karnataka Paediatric Journal · 0 citations