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European Journal of Medical Genetics|February 10, 2022
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type IINeha Agrawal, Gaurav Verma, Deepti Saxena, et al.Genetics in Medicine Open|May 25, 2026
Evaluating and monitoring liver disease severity in glycogen storage disease type IX: Performance of novel and established clinical scoresAnna Paschall, Rebecca L Koch, Alisha M Mavis, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2018
An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe diseaseZoheb B Kazi, Ankit K Desai, R Bradley Troxler, et al.Journal of Obstetrics and Gynaecology of India|November 13, 2018
Single Nucleotide Polymorphism-Based Noninvasive Prenatal Testing: Experience in IndiaIshwar Chander Verma, Ratna Puri, Eswarachary Venkataswamy, et al.Molecular Genetics and Metabolism|October 2, 2020
The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspectiveMohamed A Elmonem, Amaya Belanger-Quintana, Andrea Bordugo, et al.American Journal of Medical Genetics. Part A|June 25, 2016
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick diseasePrajnya Ranganath, Divya Matta, Gandham SriLakshmi Bhavani, et al.Human Mutation|August 6, 2016
Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic ParaplegiaGaurav V Harlalka, Meriel E McEntagart, Neerja Gupta, et al.Journal of Human Genetics|July 12, 2020
Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type IIIDivya Pasumarthi, Neerja Gupta, Jayesh Sheth, 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.American Journal of Human Genetics|December 24, 2013
Mutations in CSPP1 lead to classical Joubert syndromeNaiara Akizu, Jennifer L Silhavy, Rasim Ozgur Rosti, et al.Pageof 21