Hasil Pencarian - Emily Farrow

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  1. 1
    P819: Genome-wide resolution of highly homologous genes using long-read PacBio HiFi sequencing*

    P819: Genome-wide resolution of highly homologous genes using long-read PacBio HiFi sequencing* oleh Xiao Chen, Egor Dolzhenko, Emily Farrow, Isabelle Thiffault, Alexander Hoischen, Tomi Pastinen, Michael Eberle

    Diterbitkan 2024-01-01
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  2. 2
    P301: Pathogenic NOTCH1 variation displays a spectrum of cardiac and extra-cardiac anomalies

    P301: Pathogenic NOTCH1 variation displays a spectrum of cardiac and extra-cardiac anomalies oleh Joseph Alaimo, Florencia Del Viso, Ana S.A. Cohen, Emily Farrow, Carol Saunders, Isabelle Thiffault

    Diterbitkan 2024-01-01
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  3. 3
    Daily Medical Liaison Is Associated with Reduced Length of Stay and Complications in Selected Patients Admitted to a Regional Vascular Surgery Service

    Daily Medical Liaison Is Associated with Reduced Length of Stay and Complications in Selected Patients Admitted to a Regional Vascular Surgery Service oleh Emma Mitchell, Roisin Coary, Paul White, Emily Farrow, Amy Crees, William Beedham, Mark Devine, Rebecca Winterborn, David Shipway

    Diterbitkan 2020-10-01
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  4. 4
    P457: A case of hexasomy 15q due to a tricentric supernumerary chromosome 15

    P457: A case of hexasomy 15q due to a tricentric supernumerary chromosome 15 oleh Emily Farrow, Laura Cross, Bonnie Sullivan, Keely Fitzgerald, Ahmed Abdelmoity, Joseph Alaimo, Elena Repnikova, John Herriges, Lei Zhang

    Diterbitkan 2023-01-01
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  5. 5
    P458: Evaluating the impact of long read genomes in rare disease: A systematic analysis of 1000 HiFi genomes*

    P458: Evaluating the impact of long read genomes in rare disease: A systematic analysis of 1000 HiFi genomes* oleh Emily Farrow, Isabelle Thiffault, Ana Cohen, Tricia Zion, Adam Walter, Margaret Gibson, Chengpeng Bi, Warren Cheung, Jeffrey Johnston, Tomi Pastinen

    Diterbitkan 2023-01-01
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  6. 6
    O10: Exome-based integrated CNV/SNV analysis as a superior first line test: Do you know what you’re missing?

    O10: Exome-based integrated CNV/SNV analysis as a superior first line test: Do you know what you’re missing? oleh Carol Saunders, Joseph Alaimo, Florencia Del Viso, Victoria Paolillo, Ana S.A. Cohen, John Herriges, Greg Marsh, Isabelle Thiffault, Emily Farrow

    Diterbitkan 2024-01-01
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  7. 7
    Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease

    Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease oleh Isabelle Thiffault, Britton Zuccarelli, Holly Welsh, Xuan Yuan, Emily Farrow, Lee Zellmer, Neil Miller, Sarah Soden, Ahmed Abdelmoity, Robert A. Brodsky, Carol Saunders

    Diterbitkan 2017-11-01
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  8. 8
    P868: How many lost diagnoses? Addressing inequitable access to genomic testing for rare diseases in rural populations

    P868: How many lost diagnoses? Addressing inequitable access to genomic testing for rare diseases in rural populations oleh Ana S.A. Cohen, Cassandra Barrett, Tricia Zion, Riley Moore, Emelia Boillat, Bradley Belden, Emily Farrow, Isabelle Thiffault, Courtney Berrios, Britton Zuccarelli, Tomi Pastinen

    Diterbitkan 2024-01-01
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  9. 9
    Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report

    Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report oleh Maxime Cadieux-Dion, Nicole P. Safina, Kendra Engleman, Carol Saunders, Elena Repnikova, Nikita Raje, Kristi Canty, Emily Farrow, Neil Miller, Lee Zellmer, Isabelle Thiffault

    Diterbitkan 2018-03-01
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  10. 10
    MicroRNA Content of Ewing Sarcoma Derived Extracellular Vesicles Leads to Biomarker Potential and Identification of a Previously Undocumented EWS-FLI1 Translocation

    MicroRNA Content of Ewing Sarcoma Derived Extracellular Vesicles Leads to Biomarker Potential and Identification of a Previously Undocumented EWS-FLI1 Translocation oleh Jennifer Crow, Glenson Samuel, Emily Farrow, Margaret Gibson, Jefferey Johnston, Erin Guest, Neil Miller, Dong Pei, Devin Koestler, Harsh Pathak, Xiaobo Liang, Cooper Mangels, Andrew K Godwin

    Diterbitkan 2022-10-01
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  11. 11
    O24: Unveiling the power of HiFi genome sequencing: One test to rule them all?

    O24: Unveiling the power of HiFi genome sequencing: One test to rule them all? oleh Emily Farrow, Carol Saunders, Margaret Gibson, Adam Walter, Ana S.A. Cohen, Joseph Alaimo, Tricia Zion, Charlie Bi, YuXin Zhou, Guil Bourque, Adam Johnson, Byunggil Yoo, Carl Schwendinger-Schreck, Jeff Johnston, Warren Cheung, Tomi Pastinen, Isabelle Thiffault

    Diterbitkan 2024-01-01
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  12. 12
    P571: Expanding the genetic and phenotypic spectrum of cohesinopathies in a single center

    P571: Expanding the genetic and phenotypic spectrum of cohesinopathies in a single center oleh Isabelle Thiffault, Joseph Alaimo, Vitoria Paolillo, Florencia Del Viso, Ana Cohen, Emily Farrow, Susan Starling, Maggie Humphrey, Caitlin Schwager, Lauren Bartik, Kendra Engleman, Laura Cross, Holly Welsh, Eric Rush, Shivarajan Amudhavalli, Bonnie Sullivan, Dihong Zhou, Elizabeth Shaffer, Waseem Baig, Lee Zellmer, Mary Rindler, Tricia Zion, Emelia Boillat, Tomi Pastinen, Carol Saunders, Isabelle Thiffault

    Diterbitkan 2023-01-01
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  13. 13
    Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort

    Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort oleh Warren A. Cheung, Adam F. Johnson, William J. Rowell, Emily Farrow, Richard Hall, Ana S. A. Cohen, John C. Means, Tricia N. Zion, Daniel M. Portik, Christopher T. Saunders, Boryana Koseva, Chengpeng Bi, Tina K. Truong, Carl Schwendinger-Schreck, Byunggil Yoo, Jeffrey J. Johnston, Margaret Gibson, Gilad Evrony, William B. Rizzo, Isabelle Thiffault, Scott T. Younger, Tom Curran, Aaron M. Wenger, Elin Grundberg, Tomi Pastinen

    Diterbitkan 2023-05-01
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