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Journal of Clinical and Experimental Hepatology|January 22, 2025
Glycerol-3-Phosphate Dehydrogenase 1 Deficiency and Steatotic Liver Disease in Children: Our Cases and Review of LiteratureAnkit Agrawal, Anshu Srivastava, Amita Moirangthem, et al.American Journal of Medical Genetics. Part A|November 23, 2019
Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathiesKatta M Girisha, Gandham S Bhavani, Hitesh Shah, et al.American Journal of Medical Genetics. Part A|May 4, 2021
Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North IndiaAmita Moirangthem, Kausik Mandal, Deepti Saxena, et al.Indian Pediatrics|June 14, 2017
Hotspots in PTPN11 Gene Among Indian Children With Noonan SyndromeDhanya Lakshmi Narayanan, Himani Pandey, Amita Moirangthem, et al.Clinical Genetics|January 14, 2025
Reanalysis of Exome Sequencing Data in the Indian Undiagnosed Diseases Program: Improving Diagnostic Yield and Ending Diagnostic OdysseyNeha Garg, Pragna Lakshmi, Suzena M Singh, et al.Journal of Pediatric Genetics|April 3, 2024
Inborn Errors of Ketogenesis: Novel Variants, Clinical Presentation, and Follow-Up in a Series of Four PatientsHaseena Sait, Somya Srivastava, Somesh Kumar, et al.International Journal of Laboratory Hematology|September 30, 2021
Molecular analysis of severe hemophilia B in Indian families: Identification of mutational hotspot and novel variantsNeha Agrawal, Ravi Kumar, Suzena Masih, et al.European Journal of Medical Genetics|May 14, 2022
Deciphering the molecular landscape of microcephaly in 87 Indian families by exome sequencingSuzena Masih, Amita Moirangthem, Arya Shambhavi, et al.Neurogenetics|February 15, 2023
Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian familiesHaseena Sait, Somya Srivastava, Manmohan Pandey, et al.American Journal of Medical Genetics. Part A|May 2, 2022
COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrumRanjana Mishra, Samarth Kulshreshtha, Kausik Mandal, et al.Pageof 5