Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: A study in 203 Indian patients

di Vijay R Boggula, Anju Shukla, Sumita Danda, Sankar V Hariharan, Sheela Nampoothiri, Rashmi Kumar, Shubha R Phadke
Pubblicazione 2014-01-01

Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients

di Sheela Nampoothiri, Dhanya Yesodharan, Amrita Bhattacherjee, Hisham Ahamed, Ratna Dua Puri, Neerja Gupta, Madhulika Kabra, Prajnya Ranganath, Meenakshi Bhat, Shubha Phadke, Akella Radha Rama Devi, Sujatha Jagadeesh, Sumita Danda, Padmavathy Narayana Sylaja, Kausik Mandal, Sunita Bijarnia‐Mahay, Ravinder Makkar, Ishwar Chander Verma, Ashwin Dalal, Uma Ramaswami
Pubblicazione 2020-11-01