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American Journal of Medical Genetics. Part A|October 15, 2024
KBG Syndrome in 16 Indian IndividualsShruti Bajaj, Sheela Nampoothiri, Roshni Chugh, et al.BMC Neurology|August 5, 2023
Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier testFrenny Sheth, Jhanvi Shah, Deepika Jain, et al.Journal of Human Genetics|August 21, 2025
Prospective study to analyze the yield and clinical impact of trio exome sequencing in 137 Indian children with autism spectrum disorderShruti Bajaj, Shreya Gandhi, Thenral S Geetha, et al.European Journal of Human Genetics : EJHG|December 20, 2024
Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasiaPrince Jacob, Swati Singh, Gandham SriLakshmi Bhavani, et al.Clinical Genetics|July 24, 2021
Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalitiesParneet Kaur, Michelle C do Rosario, Malavika Hebbar, et al.European Journal of Human Genetics : EJHG|December 19, 2023
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from IndiaShruti Pande, Purvi Majethia, Karthik Nair, 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.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.Orphanet Journal of Rare Diseases|August 13, 2024
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centreJayesh Sheth, Aadhira Nair, Frenny Sheth, et al.Pageof 2