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International Journal of Biological Macromolecules|January 19, 2020
Anticancer efficacy of 6-thioguanine loaded chitosan nanoparticles with or without curcuminRashmi Rajashekaraiah, P Ravi Kumar, N Prakash, et al.Human Mutation|July 17, 2021
Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiencyDipti Deshpande, Shailesh Kumar Gupta, Asodu Sandeep Sarma, et al.Journal of Clinical Virology : the Official Publication of the Pan American Society for Clinical Virology|July 15, 2014
Evolution of an influenza pandemic in 13 countries from 5 continents monitored by protein microarray from neonatal screening bloodspotsE de Bruin, J G Loeber, A Meijer, et al.American Journal of Medical Genetics. Part A|September 25, 2014
GALNS mutations in Indian patients with mucopolysaccharidosis IVAAbdul Mueed Bidchol, Ashwin Dalal, Hitesh Shah, et al.Journal of Clinical Immunology|January 19, 2021
Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous MutationsGiuliana Giardino, Svetlana O Sharapova, Peter Ciznar, et al.Orphanet Journal of Rare Diseases|January 28, 2026
Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicineJayesh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.Cell|May 14, 2011
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathwaysLiyun Sang, Julie J Miller, Kevin C Corbit, et al.Human Genomics|May 10, 2024
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in IndiaHarsh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.Frontiers in Bioscience (Elite Edition)|June 2, 2012
Bladder cancer documentation of causes: multilingual questionnaire, 'bladder cancer doc'Klaus Golka, Yael Abreu-Villaca, Rowshanak Anbari Attar, et al.Journal of Neurology|May 10, 2019
Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patientsAparna Ganapathy, Avshesh Mishra, Megha Rani Soni, et al.Pageof 22