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

por Mishra, Anushree, Devi, Saranya, Saxena, Rohit, Gupta, Neerja, Kabra, Madhulika, Chowdhury, Madhumita Roy
Publicado 2017

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

por Singh, Pawan Kumar, Ghosh, Manju, Sharma, Shipra, Shastri, Shivaram, Gupta, Neerja, Chowdhury, Madhumita Roy, Anand, Anuranjan, Kabra, Madhulika
Publicado 2017

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

por Dubey, Sudhisha, Tardy, Veronique, Chowdhury, Madhumita Roy, Gupta, Neerja, Jain, Vandana, Deka, Deepika, Sharma, Pankaj, Morel, Yves, Kabra, Madhulika
Publicado 2017