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Showing results (1331-1340 of 1,360) with videos related to

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JAMA|October 24, 2024
Expanded Newborn Screening Using Genome Sequencing for Early Actionable ConditionsAlban Ziegler, Carrie Koval-Burt, Denise M Kay, et al.
Genome Research|September 10, 2017
Detection of long repeat expansions from PCR-free whole-genome sequence dataEgor Dolzhenko, Joke J F A van Vugt, Richard J Shaw, et al.
HGG Advances|April 8, 2025
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare diseaseAlka Malhotra, Erin Thorpe, Alison J Coffey, et al.
Science Translational Medicine|August 9, 2023
Core mitochondrial genes are down-regulated during SARS-CoV-2 infection of rodent and human hostsJoseph W Guarnieri, Joseph M Dybas, Hossein Fazelinia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2019
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomaliesMichael D Fountain, David S Oleson, Megan E Rech, et al.
American Journal of Human Genetics|June 6, 2024
The impact of clinical genome sequencing in a global population with suspected rare genetic diseaseErin Thorpe, Taylor Williams, Chad Shaw, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 27, 2024
Lethal COVID-19 associates with RAAS-induced inflammation for multiple organ damage including mediastinal lymph nodesMichael J Topper, Joseph W Guarnieri, Jeffrey A Haltom, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 3, 2023
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a changeHeidi L Rehm, Joseph T Alaimo, Swaroop Aradhya, et al.
Nature|November 13, 2025
Multi-omics analysis of a pig-to-human decedent kidney xenotransplantEloi Schmauch, Brian D Piening, Alexa K Dowdell, et al.
The Journal of Allergy and Clinical Immunology|July 9, 2021
Development of a core outcome set for therapeutic studies in eosinophilic esophagitis (COREOS), Christopher Ma, Alain M Schoepfer, et al.
Pageof 136

Showing results (1331-1340 of 1,360) with videos related to

Sort By:
Pageof 136
JAMA|October 24, 2024
Expanded Newborn Screening Using Genome Sequencing for Early Actionable ConditionsAlban Ziegler, Carrie Koval-Burt, Denise M Kay, et al.
Genome Research|September 10, 2017
Detection of long repeat expansions from PCR-free whole-genome sequence dataEgor Dolzhenko, Joke J F A van Vugt, Richard J Shaw, et al.
HGG Advances|April 8, 2025
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare diseaseAlka Malhotra, Erin Thorpe, Alison J Coffey, et al.
Science Translational Medicine|August 9, 2023
Core mitochondrial genes are down-regulated during SARS-CoV-2 infection of rodent and human hostsJoseph W Guarnieri, Joseph M Dybas, Hossein Fazelinia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2019
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomaliesMichael D Fountain, David S Oleson, Megan E Rech, et al.
American Journal of Human Genetics|June 6, 2024
The impact of clinical genome sequencing in a global population with suspected rare genetic diseaseErin Thorpe, Taylor Williams, Chad Shaw, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 27, 2024
Lethal COVID-19 associates with RAAS-induced inflammation for multiple organ damage including mediastinal lymph nodesMichael J Topper, Joseph W Guarnieri, Jeffrey A Haltom, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 3, 2023
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a changeHeidi L Rehm, Joseph T Alaimo, Swaroop Aradhya, et al.
Nature|November 13, 2025
Multi-omics analysis of a pig-to-human decedent kidney xenotransplantEloi Schmauch, Brian D Piening, Alexa K Dowdell, et al.
The Journal of Allergy and Clinical Immunology|July 9, 2021
Development of a core outcome set for therapeutic studies in eosinophilic esophagitis (COREOS), Christopher Ma, Alain M Schoepfer, et al.
Pageof 136