Frequency of primary mutations of Leber's hereditary optic neuropathy patients in North Indian population

by Anushree Mishra, Saranya Devi, Rohit Saxena, Neerja Gupta, Madhulika Kabra, Madhumita Roy Chowdhury
Published 2017-01-01

Identification of a novel homozygous mutation in transmembrane channel like 1 (TMC1) gene, one of the second-tier hearing loss genes after GJB2 in India

by Pawan Kumar Singh, Manju Ghosh, Shipra Sharma, Shivaram Shastri, Neerja Gupta, Madhumita Roy Chowdhury, Anuranjan Anand, Madhulika Kabra
Published 2017-01-01

Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia: Experience from a tertiary care centre in India

by Sudhisha Dubey, Veronique Tardy, Madhumita Roy Chowdhury, Neerja Gupta, Vandana Jain, Deepika Deka, Pankaj Sharma, Yves Morel, Madhulika Kabra
Published 2017-01-01

Decoding of novel missense TSC2 gene variants using in-silico methods

by Shruthi Sudarshan, Manoj Kumar, Punit Kaur, Atin Kumar, Sethuraman G., Savita Sapra, Sheffali Gulati, Neerja Gupta, Madhulika Kabra, Madhumita Roy Chowdhury
Published 2019-10-01