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Life (Basel, Switzerland)|September 23, 2022
Exome-Wide Association Study Reveals Host Genetic Variants Likely Associated with the Severity of COVID-19 in Patients of European AncestryPriyanka Upadhyai, Pooja U Shenoy, Bhavya Banjan, et al.
American Journal of Medical Genetics. Part A|September 29, 2020
Phenotypic diversity and genetic complexity of PAX3-related Waardenburg syndromePuneeth H Somashekar, Priyanka Upadhyai, Dhanya L Narayanan, et al.
Frontiers in Public Health|December 29, 2023
The impact of COVID-19 on pulmonary, neurological, and cardiac outcomes: evidence from a Mendelian randomization studyPooja U Shenoy, Hrushikesh Udupa, Jyothika Ks, et al.
Developmental Cell|August 8, 2020
Modulation of the Promoter Activation Rate Dictates the Transcriptional Response to Graded BMP Signaling Levels in the Drosophila EmbryoCaroline Hoppe, Jonathan R Bowles, Thomas G Minchington, et al.
Human Mutation|May 31, 2021
Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1APriyanka Upadhyai, Periyasamy Radhakrishnan, Vishal S Guleria, et al.
Journal of Human Genetics|March 31, 2017
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndromeAnju Shukla, Malavika Hebbar, Anshika Srivastava, et al.
Clinical Genetics|January 19, 2021
Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasiaPuneeth H Somashekar, Parneet Kaur, Joshi Stephen, et al.
Frontiers in Genetics|January 21, 2026
Genomic and ancestral variations linked to the development of post-acute sequelae of SARS-CoV-2 infection in Indian populationsPooja Umesh Shenoy, Hrushikesh Udupa, A I Ananthakrishnan, et al.
Medrxiv : the Preprint Server for Health Sciences|February 6, 2026
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disordersAnkur Chaurasia, Anju Shukla, Shruti Pande, et al.
European Journal of Human Genetics : EJHG|June 26, 2026
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disordersAnkur Chaurasia, Anju Shukla, Shruti Pande, et al.
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