Zoekresultaten - 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 door Elizabeth Scotchman, Natalie Chandler, Rhiannon Mellis, Lyn S. Chitty

    Gepubliceerd in 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 door Joseph Shaw, Elizabeth Scotchman, Natalie Chandler, Lyn S. Chitty

    Gepubliceerd in 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 door Britt Hanson, Elizabeth Scotchman, Lyn S. Chitty, Natalie Chandler

    Gepubliceerd in 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 door Rhiannon Mellis, Kathryn Oprych, Elizabeth Scotchman, Melissa Hill, Lyn S. Chitty

    Gepubliceerd in 2022
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  5. 5
    Lessons learnt from prenatal exome sequencing

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

    Gepubliceerd in 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... door 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

    Gepubliceerd in 2023
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