Torthaí cuardaigh - Riethmaier, Darlene

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  1. 1
    Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR

    Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR de réir Nykamp, Keith, Truty, Rebecca, Riethmaier, Darlene, Wilkinson, Julia, Bristow, Sara L., Aguilar, Sienna, Neitzel, Dana, Faulkner, Nicole, Aradhya, Swaroop

    Foilsithe / Cruthaithe 2021
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  2. 2
    The Laboratory-Clinician Team: A Professional Call to Action to Improve Communication and Collaboration for Optimal Patient Care in Chromosomal Microarray Testing

    The Laboratory-Clinician Team: A Professional Call to Action to Improve Communication and Collaboration for Optimal Patient Care in Chromosomal Microarray Testing de réir Wain, Karen E., Riggs, Erin, Hanson, Karen, Savage, Melissa, Riethmaier, Darlene, Muirhead, Andrea, Mitchell, Elyse, Packard, Bethanny Smith, Faucett, W. Andrew

    Foilsithe / Cruthaithe 2012
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  3. 3
    Towards a Universal Clinical Genomics Database: The 2012 International Standards for Cytogenomic Arrays (ISCA) Consortium Meeting

    Towards a Universal Clinical Genomics Database: The 2012 International Standards for Cytogenomic Arrays (ISCA) Consortium Meeting de réir Riggs, Erin Rooney, Wain, Karen E., Riethmaier, Darlene, Savage, Melissa, Smith-Packard, Bethanny, Kaminsky, Erin B., Rehm, Heidi L., Martin, Christa Lese, Ledbetter, David H., Faucett, W. Andrew

    Foilsithe / Cruthaithe 2013
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  4. 4
    Multigene Panel Testing in a Large Cohort of Adults With Epilepsy: Diagnostic Yield and Clinically Actionable Genetic Findings

    Multigene Panel Testing in a Large Cohort of Adults With Epilepsy: Diagnostic Yield and Clinically Actionable Genetic Findings de réir McKnight, Dianalee, Bristow, Sara L., Truty, Rebecca M., Morales, Ana, Stetler, Molly, Westbrook, M. Jody, Robinson, Kristina, Riethmaier, Darlene, Borlot, Felippe, Kellogg, Marissa, Hwang, Sean T., Berg, Anne, Aradhya, Swaroop

    Foilsithe / Cruthaithe 2021
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  5. 5
    Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy

    Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy de réir Truty, Rebecca, Patil, Nila, Sankar, Raman, Sullivan, Joseph, Millichap, John, Carvill, Gemma, Entezam, Ali, Esplin, Edward D., Fuller, Amy, Hogue, Michelle, Johnson, Britt, Khouzam, Amirah, Kobayashi, Yuya, Lewis, Rachel, Nykamp, Keith, Riethmaier, Darlene, Westbrook, Jody, Zeman, Michelle, Nussbaum, Robert L., Aradhya, Swaroop

    Foilsithe / Cruthaithe 2019
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