Showing results (141-150 of 203) with videos related to
Sort By:
Pageof 21
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.Indian Journal of Dermatology, Venereology and Leprology|January 9, 2015
Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patientsParag M Tamhankar, Shruti V Iyer, Shyla Ravindran, et al.Metabolic Brain Disease|August 5, 2017
Asparagine Synthetase deficiency-report of a novel mutation and review of literatureNeerja Gupta, Vishal Vishnu Tewari, Manoj Kumar, et al.BMC Neurology|December 14, 2018
Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patientsJayesh Sheth, Mehul Mistri, Riddhi Bhavsar, et al.Journal of Child Neurology|July 4, 2012
Effectiveness and safety of donepezil in boys with fragile x syndrome: a double-blind, randomized, controlled pilot studyJitendra Kumar Sahu, Sheffali Gulati, Savita Sapra, 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.American Journal of Medical Genetics. Part A|January 13, 2023
The spectrum of neurological manifestations and genotype-phenotype correlation in Indian children with Gaucher diseaseMahesh Venkatachari, Soumalya Chakraborty, Alec Reginald Errol Correa, et al.Journal of Human Genetics|January 25, 2019
Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophyDhanya Lakshmi Narayanan, Divya Matta, Neerja Gupta, et al.Biorxiv : the Preprint Server for Biology|January 20, 2025
MLC1 alteration in iPSCs give rise to disease-like cellular vacuolation phenotype in the astrocyte lineageSaumya Sharma, Vishal Bharti, Prosad Kumar Das, et al.Pageof 21