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Indian Journal of Pediatrics|November 10, 2017
Socio-demographic Profile and Economic Burden of Treatment of Transfusion Dependent ThalassemiaAmita Moirangthem, Shubha R PhadkeAmerican Journal of Medical Genetics. Part A|January 11, 2021
Novel FOXP1 pathogenic variants in two Indian subjects with syndromic intellectual disabilityAmita Moirangthem, Shubha R PhadkeJournal of Human Genetics|February 11, 2026
Childhood-onset ataxia with dystonia: expanding the spectrum of VWA3B-related disordersNaik Adarsha, Pradip Paria, Amita MoirangthemAmerican Journal of Medical Genetics. Part A|February 15, 2021
Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9BSuzena Masih, Amita Moirangthem, Shubha R PhadkeMolecular Syndromology|June 28, 2021
Homozygous Missense Variation in PNPLA8 Causes Prenatal-Onset Severe NeurodegenerationSuzena Masih, Amita Moirangthem, Shubha R PhadkeIndian Pediatrics|February 2, 2022
Indian Undiagnosed Diseases Program (I-UDP) - The Unmet NeedRatna Dua Puri, Ashwin Dalal, Amita MoirangthemAmerican Journal of Medical Genetics. Part A|December 17, 2019
Renpenning syndrome in an Indian patientSuzena Masih, Amita Moirangthem, Shubha R PhadkeMolecular Syndromology|February 6, 2025
Homozygous Intragenic Deletion in WDR62 in Siblings with Primary MicrocephalySuzena M Singh, Rajesh K Maurya, Amita MoirangthemIndian Pediatrics|July 24, 2019
Vici Syndrome with a Novel Mutation in EPG5Amita Moirangthem, Kausik Mandal, Apurba Ghosh, et al.American Journal of Medical Genetics. Part A|February 23, 2022
Autosomal recessive spinocerebellar ataxia-20 due to a novel SNX14 variant in an Indian girlHaseena Sait, Amita Moirangthem, Vinita Agrawal, et al.Pageof 5