Showing results (71-80 of 123) with videos related to
Sort By:
Pageof 13
American Journal of Medical Genetics. Part A|October 22, 2022
Muscle spasms as presenting feature of Nivelon-Nivelon-Mabile syndromeNeelam Saini, Aneek Das Bhowmik, Sireesha Yareeda, et al.European Journal of Medical Genetics|December 3, 2014
Mutations in patients with osteogenesis imperfecta from consanguineous Indian familiesJoshi Stephen, Katta Mohan Girisha, Ashwin Dalal, et al.Molecular Biology Reports|May 11, 2026
Integrative approach for delineating structural variants using optical genome mapping and long-read genome sequencingUsha R Dutta, Kritika Ramgopal, N Divya Bhanu, et al.Journal of Human Genetics|December 16, 2022
Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosisPrajna Udupa, Debasish Kumar Ghosh, Neethukrishna Kausthubham, et al.Prenatal Diagnosis|November 20, 2019
Exome sequencing for perinatal phenotypes: The significance of deep phenotypingShagun Aggarwal, Venugopal Satidevi Vineeth, Aneek Das Bhowmik, et al.Neurology India|July 22, 2022
Clinical and Molecular Spectrum of Degenerative Cerebellar Ataxia: A Single Centre StudySurya Balakrishnan, Shagun Aggarwal, Mayandi Muthulakshmi, 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.American Journal of Medical Genetics. Part A|March 29, 2014
Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutationsPiranit Nik Kantaputra, Hulya Kayserili, Yeliz Guven, et al.Hormone Research in Paediatrics|July 10, 2024
Functional Characterization of Thyroid Peroxidase Missense Variants Causing Thyroid Dyshormonogenesis in Asian Indian PopulationAsodu Sandeep Sarma, Ankush Desai, Madhava Rao, et al.Prenatal Diagnosis|May 19, 2022
Fetal phenotypes of Mendelian disorders: A descriptive study from IndiaNeelam Saini, Vijaya Sree Venkatapuram, Venugopal Satidevi Vineeth, et al.Pageof 13