检索结果 - Elisabeth Simard‐Tremblay

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    Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation

    Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation 由 Shreyas Bhat, Justine Rousseau, Coralie Michaud, Charles Marques Lourenço, Joan M. Stoler, Raymond J. Louie, L. Kate Clarkson, Angie Lichty, Daniel C. Koboldt, Shalini C. Reshmi, Sanjay M. Sisodiya, Eva M. M. Hoytema van Konijnenburg, Klaas Koop, Peter M. van Hasselt, Florence Démurger, Christèle Dubourg, Bonnie Sullivan, Susan Hughes, Isabelle Thiffault, Elisabeth Simard Tremblay, Andrea Accogli, Myriam Srour, Rikard Blunck, Philippe M. Campeau

    出版 2024
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    KCNT1‐related epilepsy: An international multicenter cohort of 27 pediatric cases

    KCNT1‐related epilepsy: An international multicenter cohort of 27 pediatric cases 由 Felippe Borlot, Ahmed Abushama, Nadine Morrison‐Levy, Puneet Jain, Kollencheri Puthenveettil Vinayan, Musaad Abukhalid, Hesham Aldhalaan, Hanin S. Almuzaini, Sheffali Gulati, Tova Hershkovitz, Ramesh Konanki, Lokesh Lingappa, Aimée F. Luat, Shatha Shafi, Brahim Tabarki, Maya Thomas, Sangeetha Yoganathan, Majid Alfadhel, Ravindra Arya, Elizabeth Donner, Salleh N. Ehaideb, Vykuntaraju K. Gowda, Vivek Jain, Priyanka Madaan, Kenneth A. Myers, Hiroshi Otsubo, Prateek Kumar Panda, Jitendra Kumar Sahu, Leticia P. B Sampaio, Suvasini Sharma, Elisabeth Simard‐Tremblay, Maria Zak, Robyn Whitney

    出版 2020
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