Hasil Pencarian - Tova Hershkovitz

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  1. 1
    Rare Disease Diagnostics: A Single-center Experience and Lessons Learnt

    Rare Disease Diagnostics: A Single-center Experience and Lessons Learnt oleh Karin Weiss, Alina Kurolap, Tamar Paperna, Adi Mory, Maya Steinberg, Tova Hershkovitz, Nina Ekhilevitch, Hagit N. Baris

    Diterbitkan 2018-07-01
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  2. 2
    Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy

    Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy oleh Shai Kellner, Abeer Abbasi, Ido Carmi, Ronit Heinrich, Tali Garin-Shkolnik, Tova Hershkovitz, Moshe Giladi, Yoni Haitin, Katrine M Johannesen, Rikke Steensbjerre Møller, Shai Berlin

    Diterbitkan 2021-07-01
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  3. 3
    A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes

    A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes oleh Tova Hershkovitz, Alina Kurolap, Galit Tal, Tamar Paperna, Adi Mory, Jeffrey Staples, Karlla W. Brigatti, Claudia Gonzaga-Jauregui, Elena Dumin, Ann Saada, Hanna Mandel, Hagit Baris Feldman

    Diterbitkan 2021-03-01
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  4. 4
    Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management

    Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management oleh Yara Nakhleh Francis, Tova Hershkovitz, Nina Ekhilevitch, Clair Habib, Sarit Ravid, Galit Tal, Mitchell Schertz, Adi Mory, Amihood Zinger, Hagit Baris Feldman, Rinat Zaid, Tamar Paperna, Karin Weiss

    Diterbitkan 2023-01-01
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  5. 5
    Vici syndrome in Israel: Clinical and molecular insights

    Vici syndrome in Israel: Clinical and molecular insights oleh Odelia Chorin, Odelia Chorin, Odelia Chorin, Yoel Hirsch, Rachel Rock, Rachel Rock, Rachel Rock, Liat Salzer Sheelo, Liat Salzer Sheelo, Yael Goldberg, Yael Goldberg, Hanna Mandel, Hanna Mandel, Tova Hershkovitz, Tova Hershkovitz, Nicole Fleischer, Lior Greenbaum, Lior Greenbaum, Lior Greenbaum, Uriel Katz, Uriel Katz, Ortal Barel, Ortal Barel, Nasrin Hamed, Nasrin Hamed, Bruria Ben-Zeev, Bruria Ben-Zeev, Shoshana Greenberger, Shoshana Greenberger, Shoshana Greenberger, Nadra Nasser Samra, Nadra Nasser Samra, Michal Stern Zimmer, Michal Stern Zimmer, Michal Stern Zimmer, Annick Raas-Rothschild, Annick Raas-Rothschild, Ben Pode-Shakked, Ben Pode-Shakked, Ben Pode-Shakked

    Diterbitkan 2022-09-01
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