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The Journal of General Virology|February 15, 2021
A comprehensive profile of genomic variations in the SARS-CoV-2 isolates from the state of Telangana, IndiaAsmita Gupta, Radhakrishnan Sabarinathan, Pratyusha Bala, et al.Journal of Cellular Biochemistry|May 18, 2012
Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1α and E1βMurali D Bashyam, Ajay K Chaudhary, Manjari Sinha, et al.American Journal of Medical Genetics. Part A|March 27, 2014
Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfectaJoshi Stephen, Anju Shukla, Ashwin Dalal, et al.Indian Pediatrics|March 6, 2018
Diagnosis and Management of Gaucher Disease in India - Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of PediatricsRatna Dua Puri, Seema Kapoor, Priya S Kishnani, et al.Andrologia|August 14, 2020
Cytogenetic and molecular study of 370 infertile men in South India highlighting the importance of copy number variations by multiplex ligation-dependent probe amplificationUsha R Dutta, Malini S Suttur, Vineeth S Venugopal, et al.Genomics|July 15, 2018
Breakpoint mapping of a novel de novo translocation t(X;20)(q11.1;p13) by positional cloning and long read sequencingUsha R Dutta, Sudha N Rao, Vijaya Kumar Pidugu, et al.European Journal of Medical Research|January 9, 2024
Title-molecular diagnostics of dystrophinopathies in Sri Lanka towards phenotype predictions: an insight from a South Asian resource limited settingNalaka Wijekoon, Lakmal Gonawala, Pyara Ratnayake, et al.Journal of Clinical Medicine|September 9, 2023
Duchenne Muscular Dystrophy from Brain to Muscle: The Role of Brain Dystrophin Isoforms in Motor FunctionsNalaka Wijekoon, Lakmal Gonawala, Pyara Ratnayake, et al.Molecular Genetics and Metabolism Reports|January 21, 2020
Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patientsVeronica Arora, Nitika Setia, Ashwin Dalal, et al.European Journal of Medical Genetics|May 4, 2021
Phenotypic and genotypic spectrum of CTSK variants in a cohort of twenty-five Indian patients with pycnodysostosisHaseena Sait, Priyanka Srivastava, Neerja Gupta, et al.Pageof 13