תוצאות חיפוש - Ismael Ghanty

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  1. 1
    <i>SCN9A</i> should not be considered an epilepsy gene; Refuting a gene–disease association

    <i>SCN9A</i> should not be considered an epilepsy gene; Refuting a gene–disease association מאת Ismael Ghanty, Eduardo Pérez‐Palma, Camilo Villamán, Daniel Stobo, Joseph D. Symonds, Sameer M. Zuberi, Dennis Lal, Andreas Brunklaus

    יצא לאור 2025
    קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  2. 2
    <i>SCN1A</i> variants from bench to bedside—improved clinical prediction from functional characterization

    <i>SCN1A</i> variants from bench to bedside—improved clinical prediction from functional characterization מאת Andreas Brunklaus, Stéphanie Schorge, Alexander D. Smith, Ismael Ghanty, Kirsty Stewart, Sarah L. Gardiner, Juanjiangmeng Du, Eduardo Pérez‐Palma, Joseph D. Symonds, Abby C. Collier, Dennis Lal, Sameer M. Zuberi

    יצא לאור 2019
    קבל טקסט מלא
    Revisão
    הוספה למועדפים
    שמור ב:
  3. 3
    Genotype–phenotype associations in 1018 individuals with <i>SCN1A</i>‐related epilepsies

    Genotype–phenotype associations in 1018 individuals with <i>SCN1A</i>‐related epilepsies מאת D.S. Gallagher, Eduardo Pérez‐Palma, Tobias Bruenger, Ismael Ghanty, Eva H. Brilstra, Berten Ceulemans, Nicole Chémaly, Iris Lange, Christel Depienne, Renzo Guerrini, Davide Mei, Rikke S. Møller, Rima Nabbout, Brigid M. Regan, Amy L. Schneider, Ingrid E. Scheffer, An‐Sofie Schoonjans, Joseph D. Symonds, Sarah Weckhuysen, Sameer M. Zuberi, Dennis Lal, Andreas Brunklaus

    יצא לאור 2024
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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    שמור ב:
  4. 4
    Development and Validation of a Prediction Model for Early Diagnosis of <i>SCN1A</i> -Related Epilepsies

    Development and Validation of a Prediction Model for Early Diagnosis of <i>SCN1A</i> -Related Epilepsies מאת Andreas Brunklaus, Eduardo Pérez‐Palma, Ismael Ghanty, Xinge Ji, Eva H. Brilstra, Berten Ceulemans, Nicole Chémaly, Iris Lange, Christel Depienne, Renzo Guerrini, Davide Mei, Rikke S. Møller, Rima Nabbout, Brigid M. Regan, Amy L. Schneider, Ingrid E. Scheffer, An‐Sofie Schoonjans, Joseph D. Symonds, Sarah Weckhuysen, Michael W. Kattan, Sameer M. Zuberi, Dennis Lal

    יצא לאור 2022
    קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  5. 5
    Biological concepts in human sodium channel epilepsies and their relevance in clinical practice

    Biological concepts in human sodium channel epilepsies and their relevance in clinical practice מאת Andreas Brunklaus, Juanjiangmeng Du, Felix Steckler, Ismael Ghanty, Katrine M. Johannesen, Christina Fenger, Stéphanie Schorge, David Báez-Nieto, Hao‐Ran Wang, Andrew S. Allen, Jen Q. Pan, Holger Lerche, Henrike Heyne, Joseph D. Symonds, Sameer M. Zuberi, Stephan Sanders, Beth Rosen Sheidley, Dana Craiu, Heather E. Olson, Sarah Weckhuysen, Peter M. DeJonge, Ingo Helbig, Hilde Van Esch, Tiffany Busa, M. Milh, Bertrand Isidor, Christel Depienne, Annapurna Poduri, Arthur J. Campbell, Jordane Dimidschstein, Rikke S. Møller, Dennis Lal

    יצא לאור 2020
    קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:

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