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Indian Journal of Pediatrics|July 5, 2026
Impact of Enzyme Replacement Therapy on Patients with Late Onset Pompe Disease - Real World Data from a Developing CountrySwasti Pal, Sunita Bijarnia-Mahay, Sheela Nampoothiri, et al.Indian Pediatrics|February 23, 2023
Consensus Statement of the Neurodevelopmental Pediatrics Chapter of Indian Academy of Pediatrics (IAP) on the Management of Children With Down SyndromeShaji Thomas John, Kizhanipurath Gayathri, Shabina Ahmed, et al.Clinical Genetics|November 6, 2018
Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndromePuneeth H Somashekar, Katta M Girisha, Sheela Nampoothiri, et al.American Journal of Medical Genetics. Part A|November 26, 2015
Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathyGandham SriLakshmi Bhavani, Hitesh Shah, Anju Shukla, et al.Journal of the Neurological Sciences|December 21, 2010
Molecular and structural analysis of metachromatic leukodystrophy patients in Indian populationPallavi Shukla, Suman Vasisht, Ranjana Srivastava, et al.Mitochondrion|January 18, 2024
Whole genome sequencing followed by functional analysis of genomic deletion encompassing ERCC8 and NDUFAF2 genes in a non-consanguineous Indian family reveals dysfunctional mitochondrial bioenergetics leading to infant mortalityAnkit Sabharwal, Vishu Gupta, Shamsudheen Kv, et al.Journal of Cellular Biochemistry|October 17, 2013
Splice, insertion-deletion and nonsense mutations that perturb the phenylalanine hydroxylase transcript cause phenylketonuria in IndiaMurali D Bashyam, Ajay K Chaudhary, Manjari Kiran, et al.American Journal of Medical Genetics. Part A|December 4, 2021
Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in IndiaAjay Kumar Chaudhary, Aishwarya Gholse, Hampapathalu Adimurthy Nagarajaram, et al.Neuromuscular Disorders : NMD|March 20, 2021
Late onset Pompe Disease in India - Beyond the Caucasian phenotypeRatna Dua Puri, Nitika Setia, Vinu N, et al.Journal of Pediatric Genetics|December 1, 2021
Mutation Spectrum of Tuberous Sclerosis Complex Patients in Indian PopulationShruthi Sudarshan, Atin Kumar, Arun Gupta, et al.Pageof 21