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

by Jhanvi Shah, Harsh Patel, Deepika Jain, Frenny Sheth, Harsh Sheth
Published 2021

Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

by Mehul Mistri, Parag M Tamhankar, Frenny Sheth, Daksha Sanghavi, Pratima Kondurkar, Swapnil Patil, Susan Idicula-Thomas, Sarita Gupta, Jayesh Sheth
Published 2012