Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III
Pasumarthi, Divya, Gupta, Neerja, Sheth, Jayesh, Jain, S. Jamal Md Nurul, Rungsung, Ikrormi, Kabra, Madhulika, Ranganath, Prajnya, Aggarwal, Shagun, Phadke, Shubha R, Girisha, Katta M., Shukla, Anju, Datar, Chaitanya, Verma, Ishwar C., Puri, Ratna Dua, Bhavsar, Riddhi, Mistry, Mehul, Sankar, V. H., Gowrishankar, Kalpana, Agrawal, Divya, Nair, Mohandas, Danda, Sumita, Soni, Jai Prakash, Dalal, Ashwin
Published in Journal of human genetics (01.11.2020)
Published in Journal of human genetics (01.11.2020)
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Aggarwal, Shagun, Vineeth, Venugopal Satidevi, Padwal, Shrutika S., Bhat, Sameer Ahmed, Singh, Arpita, Kulkarni, Aditya, Patil, Mallikarjun, Tallapaka, Karthik, Pasumarthi, Divya, Venkatapuram, Vijayasree, Thotakura, Pragna Lakshmi, Dalal, Ashwin, Bhandari, Rashna
Published in Clinical genetics (01.09.2024)
Published in Clinical genetics (01.09.2024)
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SERPINA11 related novel serpinopathy – A perinatal lethal disorder
Aggarwal, Shagun, Vineeth, Venugopal Satidevi, Padwal, Shrutika S., Bhat, Sameer Ahmed, Singh, Arpita, Kulkarni, Aditya, Patil, Mallikarjun, Tallapaka, Karthik, Pasumarthi, Divya, Venkatapuram, Vijayasree, Thotakura, Pragna Lakshmi, Dalal, Ashwin, Bhandari, Rashna
Published in Clinical genetics (01.09.2024)
Published in Clinical genetics (01.09.2024)
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Identification of three novel mutations in SLCO2A1 in Asian-Indians with Pachydermoperiostosis
Pasumarthi, Divya, Ranganath, Priya, Mandal, Kausik, Lakshmi, N, Dalal, Ashwin, Aggarwal, Shagun
Published in Indian journal of medical research (New Delhi, India : 1994) (01.03.2023)
Published in Indian journal of medical research (New Delhi, India : 1994) (01.03.2023)
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Identification and in-silico analysis of a novel disease-causing variant in the GUSB gene for Mucopolysaccharidosis VII presenting as non-immune fetal hydrops
Bhattacherjee, Amrita, Ranganath, Prajnya, Pasumarthi, Divya, Dalal, Ashwin B.
Published in Gene reports (01.09.2019)
Published in Gene reports (01.09.2019)
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