Publications by authors named "Aradhna Mathur"

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A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients.
Kiran Polavarapu, Aradhna Mathur, Aditi Joshi, Saraswati Nashi, Veeramani Preethish-Kumar

Neurogenetics· October 2021

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Spinocerebellar ataxia type 10 (SCA10): Mutation analysis and common haplotype based inference suggest its rarity in Indian population.
Divya Goel, Varun Suroliya, Uzma Shamim, Aradhna Mathur, Mohammed Faruq

eNeurologicalSci· December 2019

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A novel mutation in SGSH causing Sanfillipo type 3A Mucopolysaccharidoses in an Indian family.
Jyotsna Singh, P K Muhammad, Sweta Jain, Aradhna Mathur, Shaista Parveen

Mol Genet Metab Rep· June 2018

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Biodiversity offsets and infrastructure.
Juan David Quintero, Aradhna Mathur

Conserv Biol· December 2011

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