A Study of Chromosomal Abnormality Patterns in Patients with Primary Amenorrhea in a Tertiary Care Referral Hospital by C Shivaleela, S Lakshmi Prabha, Meenakshi Bhat, K Jayaram, KL Harshal

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Mutations in ARSB in MPS VI patients in India by Juby Mathew, Sujatha M. Jagadeesh, Meenakshi Bhat, S. Udhaya Kumar, Saravanamuthu Thiyagarajan, Sudha Srinivasan

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Molecular and clinical profiling in a large cohort of Asian Indians with glycogen storage disorders. by Tejashwini Vittal Kumar, Meenakshi Bhat, Sanjeeva Ghanti Narayanachar, Vinu Narayan, Ambika K Srikanth, Swathi Anikar, Swathi Shetty

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Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations by Jeevana Praharsha Athota, Meenakshi Bhat, Sheela Nampoothiri, Kalpana Gowrishankar, Sanjeeva Ghanti Narayanachar, Vinuth Puttamallesh, Mohammed Oomer Farooque, Swathi Shetty

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

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