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Number of items: 5.

Article

Nampoothiri, S. and Yesodharan, D. and Bhattacherjee, Amrita and Ahamed, H. and Puri, R.D. and Gupta, N. and Kabra, M. and Ranganath, Prajnya and Bhat, M. and Phadke, S.R. and Radha Rama Devi, A. and Jagadeesh, S. and Danda, S. and Sylaja, P.N. and Mandal, K. and Bijarnia‚ÄźMahay, S. and Makkar, R. and Verma, I.C. and Dalal, Ashwin and Ramaswami, U. (2020) Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients. JIMD Reports, 56 (1). pp. 82-94. ISSN 2192-8312

Aggarwal, Shagun and Vineeth, V.S. and Das Bhowmik, A. and Tandon, A. and Kulkarni, A. and Dhanya Lakshmi, N. and Bhattacherjee, Amrita and Dalal, Ashwin (2020) Exome sequencing for perinatal phenotypes: the significance of deep phenotyping. Prenatal Diagnosis, 40 (2). pp. 260-273. ISSN 0197-3851

Dutta, Usha and Rao, S.N. and Vijaya Kumar, P. and Vineeth, V.S. and Bhattacherjee, Amrita and Das Bhowmik, A. and Ramaswamy, S.K. and Singh, K.G. and Dalal, Ashwin (2019) Breakpoint mapping of a novel de novo translocation t(X;20)(q11.1;p13) by positional cloning and long read sequencing. Genomics, 111 (5). pp. 1108-1114. ISSN 0888-7543

Bhattacherjee, Amrita and Ranganath, P. and Divya, Pasumarthi and Dalal, Ashwin (2019) Identification and in-silico analysis of a novel disease-causing variant in the GUSB gene for Mucopolysaccharidosis VII presenting as non-immune fetal hydrops. Gene Reports, 16. p. 100437. ISSN 2452-0144

Karthik, T. and Aggarwal, Shagun and Bhattacherjee, Amrita and Das Bhowmik, A. and Dalal, Ashwin (2019) Co-Occurrence of Leber Congenital Amaurosis and Meckel Syndrome Type 1 in a Fetus: Is There a Lesson to Be Learned? Molecular Syndromology, 10 (3). pp. 177-182. ISSN 1661-8769

This list was generated on Sat Apr 10 23:03:23 2021 IST.