Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency
Deshpande, Dipti, Gupta, Shailesh Kumar, Sarma, Asodu Sandeep, Ranganath, Prajnya, Jain S., Jamal Md Nurul, Sheth, Jayesh, Mistri, Mehul, Gupta, Neerja, Kabra, Madhulika, Phadke, Shubha R., Girisha, Katta M., Dua Puri, Ratna, Aggarwal, Shagun, Datar, Chaitanya, Mandal, Kausik, Tilak, Preetha, Muranjan, Mamta, Bijarnia‐Mahay, Sunita, Rama Devi A., Radha, Tayade, Naresh B., Ranjan, Akash, Dalal, Ashwin B.
Published in Human mutation (01.10.2021)
Published in Human mutation (01.10.2021)
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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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Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI
Uttarilli, Anusha, Ranganath, Prajnya, Jain, S Jamal Md Nurul, Prasad, C Krishna, Sinha, Anupam, Verma, Ishwar C, Phadke, Shubha R, Puri, Ratna D, Danda, Sumita, Muranjan, Mamta N, Jevalikar, Ganesh, Nagarajaram, H A, Dalal, Ashwin B
Published in Indian journal of medical research (New Delhi, India : 1994) (01.10.2015)
Published in Indian journal of medical research (New Delhi, India : 1994) (01.10.2015)
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GALNS mutations in Indian patients with mucopolysaccharidosis IVA
Bidchol, Abdul Mueed, Dalal, Ashwin, Shah, Hitesh, S, Suryanarayana, Nampoothiri, Sheela, Kabra, Madhulika, Gupta, Neerja, Danda, Sumita, Gowrishankar, Kalpana, Phadke, Shubha R., Kapoor, Seema, Kamate, Mahesh, Verma, I.C., Puri, Ratna Dua, Sankar, V.H., Devi, A. Radha Rama, Patil, S.J., Ranganath, Prajnya, Jain, S. Jamal Md Nurul, Agarwal, Meenal, Singh, Ankur, Mishra, Pallavi, Tamhankar, Parag M., Gopinath, Puthiya Mundyat, Nagarajaram, H.A., Satyamoorthy, Kapaettu, Girisha, Katta Mohan
Published in American journal of medical genetics. Part A (01.11.2014)
Published in American journal of medical genetics. Part A (01.11.2014)
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Protein structure prediction for novel mutations in Arylsulfatase-A gene
Divya, M, Jain, S Jamal, Phadke, SR, Kishore, Ratna, Kamate, Mahesh, Gupta, Neerja, Dalal, Ashwin
Published in Molecular cytogenetics (01.01.2014)
Published in Molecular cytogenetics (01.01.2014)
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Molecular analysis of mucopolysaccharidoses: identification and characterization of pathogenic mutations in Indian population
Uttarilli, Anusha, Jain, S Jamal, Dalal, Ashwin B, Ranganath, Prajnya, Phadke, Shubha R, Kumar, Girisha, Sankar, Null, Patil, SJ, Kabra, Madhulika, Danda, Sumita
Published in Molecular cytogenetics (01.01.2014)
Published in Molecular cytogenetics (01.01.2014)
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