Canlyniadau Chwilio - Amanda Lindy

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  1. 1
    High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders

    High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders gan Mary Beth Stosser, Amanda Lindy, Elizabeth Butler, Kyle Retterer, Caitlin M. Piccirillo-Stosser, Gabriele Richard, Dianalee McKnight

    Cyhoeddwyd 2017
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  2. 2
    Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders

    Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders gan Amanda Lindy, Mary Beth Stosser, Elizabeth Butler, Courtney Downtain‐Pickersgill, Anita Shanmugham, Kyle Retterer, Tracy Brandt, Gabriele Richard, Dianalee McKnight

    Cyhoeddwyd 2018
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  3. 3
    A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants

    A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants gan Javier A. López-Rivera, Eduardo Pérez‐Palma, Joseph D. Symonds, Amanda Lindy, Dianalee McKnight, Costin Leu, Sameer M. Zuberi, Andreas Brunklaus, Rikke S. Møller, Dennis Lal

    Cyhoeddwyd 2020
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  4. 4
    High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity

    High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity gan Carlos G. Vanoye, Reshma R. Desai, Zhigang Ji, Sneha Adusumilli, Nirvani Jairam, Nora F. Ghabra, Nishtha Joshi, Eryn Fitch, Katherine L. Helbig, Dianalee McKnight, Amanda Lindy, Fanggeng Zou, Ingo Helbig, Edward C. Cooper, Alfred L. George

    Cyhoeddwyd 2022
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  5. 5
    Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

    Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup gan Logan C. Walker, Miguel de la Hoya, George A. R. Wiggins, Amanda Lindy, Lisa M. Vincent, Michael T. Parsons, Daffodil M. Canson, Dana M. Bis‐Brewer, Ashley Cass, Alexander Tchourbanov, Heather Zimmermann, Alicia B. Byrne, Tina Pesaran, Rachid Karam, Steven M. Harrison, Amanda B. Spurdle, Leslie G. Biesecker, Steven M. Harrison, Ahmad Abou Tayoun, Jonathan S. Berg, Steven E. Brenner, Garry R. Cutting, Sian Ellard, Marc S. Greenblatt, Peter B. Kang, Izabela Karbassi, Rachel Karchin, Jessica L. Mester, Anne O’Donnell‐Luria, Tina Pesaran, Sharon E. Plon, Heidi L. Rehm, Natasha T. Strande, Sean V. Tavtigian, Scott Topper

    Cyhoeddwyd 2023
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