Showing 1 - 7 results of 7 for search 'Bruria Ben‐Zeev', query time: 0.02s Refine Results
  1. 1
    Previously defined variants of uncertain significance may play an important role in epilepsy and interactions between certain variants may become pathogenic

    Previously defined variants of uncertain significance may play an important role in epilepsy and interactions between certain variants may become pathogenic by Yara Hussein, Hila Weisblum‐Neuman, Bruria Ben Zeev, Shani Stern

    Published 2024-12-01
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  2. 2
    Generation of human induced pluripotent stem cell lines HUJIi004 and HUJIi005 from two individuals carrying autosomal-dominant mutations in the CTNBB1 gene resulting in CTNNB1 neurodevelopmental disorder

    Generation of human induced pluripotent stem cell lines HUJIi004 and HUJIi005 from two individuals carrying autosomal-dominant mutations in the CTNBB1 gene resulting in CTNNB1 neur... by Daniel J. Steinberg, Kian Maroun, Srinivasarao Repudi, Bruria Ben-Zeev, Rami I. Aqeilan

    Published 2025-03-01
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  3. 3
    Patient selection considerations for AADC deficiency gene therapy

    Patient selection considerations for AADC deficiency gene therapy by Agathe Roubertie, Irina Anselm, Bruria Ben‐Zeev, Wuh‐Liang Hwu, Ashutosh Kumar, Berrin Monteleone, Shin‐ichi Muramatsu, Vincenzo Leuzzi, Salvador Ibáñez, Scellig Stone, Phillip L. Pearl

    Published 2024-03-01
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  4. 4
    O14: Administration of eladocagene exuparvovec using the SmartFlow magnetic resonance-compatible ventricular cannula in pediatric patients with aromatic ʟ-amino acid decarboxylase deficiency

    O14: Administration of eladocagene exuparvovec using the SmartFlow magnetic resonance-compatible ventricular cannula in pediatric patients with aromatic ʟ-amino acid decarboxylase... by Alexis Krolick, Paul Hwu, Donald Gilbert, Bruria Ben-Zeev, Daniel Curry, Scellig Stone, Matthew Vestal, Christian Werner, Vinay Penematsa, Antonia Wang, Rezwanur Rahman, Lee Golden, Phillip Pearl

    Published 2025-01-01
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  5. 5
    Autoimmune Epilepsy: Some Epilepsy Patients Harbor Autoantibodies to Glutamate Receptors and dsDNA on both Sides of the Blood-brain Barrier, which may Kill Neurons and Decrease in Brain Fluids after Hemispherotomy

    Autoimmune Epilepsy: Some Epilepsy Patients Harbor Autoantibodies to Glutamate Receptors and dsDNA on both Sides of the Blood-brain Barrier, which may Kill Neurons and Decrease in... by Yonatan Ganor, Hadassa Goldberg-Stern, Dina Amrom, Tally Lerman-Sagie, Vivian I. Teichberg, Dori Pelled, Anthony H. Futerman, Bruria Ben Zeev, Michael Freilinger, Denis Verheulpen, Patrick Van Bogaert, Mia Levite

    Published 2004-01-01
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  6. 6
    Personalized allele-specific antisense oligonucleotides for GNAO1-neurodevelopmental disorder

    Personalized allele-specific antisense oligonucleotides for GNAO1-neurodevelopmental disorder by Inna Shomer, Nofar Mor, Shaul Raviv, Noga Budick-Harmelin, Tanya Matchevich, Sharon Avkin-Nachum, Yoach Rais, Rebecca Haffner-Krausz, Ariela Haimovich, Aviv Ziv, Reut Fluss, Bruria Ben-Ze’ev, Gali Heimer, Denis N. Silachev, Vladimir L. Katanaev, Dan Dominissini

    Published 2025-03-01
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  7. 7
    Analysis of the Phenotypes in the Rett Networked Database

    Analysis of the Phenotypes in the Rett Networked Database by Elisa Frullanti, Filomena T. Papa, Elisa Grillo, Angus Clarke, Bruria Ben-Zeev, Mercedes Pineda, Nadia Bahi-Buisson, Thierry Bienvenu, Judith Armstrong, Ana Roche Martinez, Francesca Mari, Andreea Nissenkorn, Caterina Lo Rizzo, Edvige Veneselli, Silvia Russo, Aglaia Vignoli, Giorgio Pini, Milena Djuric, Anne-Marie Bisgaard, Kirstine Ravn, Vlatka Mejaski Bosnjak, Joussef Hayek, Rajni Khajuria, Barbara Montomoli, Francesca Cogliati, Maria Pintaudi, Kinga Hadzsiev, Dana Craiu, Victoria Voinova, Aleksandra Djukic, Laurent Villard, Alessandra Renieri

    Published 2019-01-01
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