Søgeresultater - Elizabeth Scotchman

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  1. 1
    Noninvasive Prenatal Diagnosis of Single-Gene Diseases: The Next Frontier

    Noninvasive Prenatal Diagnosis of Single-Gene Diseases: The Next Frontier af Elizabeth Scotchman, Natalie Chandler, Rhiannon Mellis, Lyn S. Chitty

    Udgivet 2019
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  2. 2
    PREIMPLANTATION GENETIC TESTING: Non-invasive prenatal testing for aneuploidy, copy-number variants and single-gene disorders

    PREIMPLANTATION GENETIC TESTING: Non-invasive prenatal testing for aneuploidy, copy-number variants and single-gene disorders af Joseph Shaw, Elizabeth Scotchman, Natalie Chandler, Lyn S. Chitty

    Udgivet 2020
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  3. 3
    Non-invasive prenatal diagnosis (NIPD): how analysis of cell-free DNA in maternal plasma has changed prenatal diagnosis for monogenic disorders

    Non-invasive prenatal diagnosis (NIPD): how analysis of cell-free DNA in maternal plasma has changed prenatal diagnosis for monogenic disorders af Britt Hanson, Elizabeth Scotchman, Lyn S. Chitty, Natalie Chandler

    Udgivet 2022
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  4. 4
    Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta‐analysis

    Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta‐analysis af Rhiannon Mellis, Kathryn Oprych, Elizabeth Scotchman, Melissa Hill, Lyn S. Chitty

    Udgivet 2022
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  5. 5
    Lessons learnt from prenatal exome sequencing

    Lessons learnt from prenatal exome sequencing af Natalie Chandler, Elizabeth Scotchman, Rhiannon Mellis, Vijaya Ramachandran, Rowenna Roberts, Lyn S. Chitty

    Udgivet 2022
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  6. 6
    Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study

    Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort stu... af Alissa M. D’Gama, Sarah Mulhern, Beth Rosen Sheidley, Fadil Boodhoo, Sarah Buts, Natalie Chandler, Joanna Cobb, Meredith Curtis, Edward J. Higginbotham, Jonathon Holland, Tayyaba Khan, Julia Koh, Nicole Si Yan Liang, Lyndsey McRae, Sarah E Nesbitt, Brandon T. Oby, Ben Paternoster, Alistair Patton, Graham Rose, Elizabeth Scotchman, Rozalia Valentine, Kimberly Wiltrout, Robin Z. Hayeems, Puneet Jain, Sebastian Lunke, Christian R. Marshall, Shira Rockowitz, Neil J. Sebire, Zornitza Stark, Susan M. White, Lyn S. Chitty, J. Helen Cross, Ingrid E. Scheffer, Vann Chau, Gregory Costain, Annapurna Poduri, Katherine B. Howell, Amy McTague

    Udgivet 2023
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