A rare case of a male child with post-zygotic de novo mosaic variant c.538C > T in MECP2 gene: a case report of Rett syndrome

por Jhanvi Shah, Harsh Patel, Deepika Jain, Frenny Sheth, Harsh Sheth
Publicado 2021

Molecular Diagnosis of Muscular Dystrophy Patients in Western Indian Population: A Comprehensive Mutation Analysis Using Amplicon Sequencing

por Komal M. Patel, Arpan D. Bhatt, Krati Shah, Bhargav N. Waghela, Ramesh J. Pandit, Harsh Sheth, Chaitanya G. Joshi, Madhvi N. Joshi
Publicado 2021