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Alexander T Deng

Showing results (1-10 of 8) with videos related to

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NPJ Digital Medicine|September 26, 2023
Digital Fellowships: Inspiring use of contemporary technologies in applied healthcareThomas Salisbury, Alexander T Deng, Emily Burch, et al.
Frontiers in Genetics|November 2, 2023
Capturing heart valve development with Gene OntologySaadullah H Ahmed, Alexander T Deng, Rachael P Huntley, et al.
BMC Medical Genomics|January 6, 2026
Defining an approach to empower clinical geneticists to do genomic reanalysisMichael M Segal, Meriel McEntagart, Alexander T Deng, et al.
Journal of Human Genetics|December 2, 2011
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequenciesAlistair T Pagnamenta, Stefano Lise, Victoria Harrison, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 9, 2019
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interactionKathleen A Williamson, H Nikki Hall, Liusaidh J Owen, et al.
Brain : a Journal of Neurology|August 30, 2023
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysisArthur Stefanski, Eduardo Pérez-Palma, Tobias Brünger, et al.
Nature Communications|February 15, 2023
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutationMarie Bernkopf, Ummi B Abdullah, Stephen J Bush, et al.
Medrxiv : the Preprint Server for Health Sciences|March 13, 2026
Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant ClassificationTobias Brünger, Ilona Krey, Suyeon Kim, et al.
Pageof 1

Showing results (1-10 of 8) with videos related to

Sort By:
Pageof 1
NPJ Digital Medicine|September 26, 2023
Digital Fellowships: Inspiring use of contemporary technologies in applied healthcareThomas Salisbury, Alexander T Deng, Emily Burch, et al.
Frontiers in Genetics|November 2, 2023
Capturing heart valve development with Gene OntologySaadullah H Ahmed, Alexander T Deng, Rachael P Huntley, et al.
BMC Medical Genomics|January 6, 2026
Defining an approach to empower clinical geneticists to do genomic reanalysisMichael M Segal, Meriel McEntagart, Alexander T Deng, et al.
Journal of Human Genetics|December 2, 2011
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequenciesAlistair T Pagnamenta, Stefano Lise, Victoria Harrison, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 9, 2019
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interactionKathleen A Williamson, H Nikki Hall, Liusaidh J Owen, et al.
Brain : a Journal of Neurology|August 30, 2023
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysisArthur Stefanski, Eduardo Pérez-Palma, Tobias Brünger, et al.
Nature Communications|February 15, 2023
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutationMarie Bernkopf, Ummi B Abdullah, Stephen J Bush, et al.
Medrxiv : the Preprint Server for Health Sciences|March 13, 2026
Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant ClassificationTobias Brünger, Ilona Krey, Suyeon Kim, et al.
Pageof 1