Hasil Pencarian - Tamar Paperna

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  1. 1
    Internet Usage by Patients with Multiple Sclerosis: Implications to Participatory Medicine and Personalized Healthcare

    Internet Usage by Patients with Multiple Sclerosis: Implications to Participatory Medicine and Personalized Healthcare oleh Izabella Lejbkowicz, Tamar Paperna, Nili Stein, Sara Dishon, Ariel Miller

    Diterbitkan 2010-01-01
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  2. 2
    Gene expression profiling of the response to interferon beta in Epstein-Barr-transformed and primary B cells of patients with multiple sclerosis.

    Gene expression profiling of the response to interferon beta in Epstein-Barr-transformed and primary B cells of patients with multiple sclerosis. oleh Rana Khsheibun, Tamar Paperna, Anat Volkowich, Izabella Lejbkowicz, Nili Avidan, Ariel Miller

    Diterbitkan 2014-01-01
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  3. 3
    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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  4. 4
    Interferon-beta induces distinct gene expression response patterns in human monocytes versus T cells.

    Interferon-beta induces distinct gene expression response patterns in human monocytes versus T cells. oleh Noa Henig, Nili Avidan, Ilana Mandel, Elsebeth Staun-Ram, Elizabeta Ginzburg, Tamar Paperna, Ron Y Pinter, Ariel Miller

    Diterbitkan 2013-01-01
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  5. 5
    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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  6. 6
    The d3GHR carrier epigenome in Druze clan longevity

    The d3GHR carrier epigenome in Druze clan longevity oleh Ghadeer Falah, Alina Kurolap, Tamar Paperna, Nina Ekhilevitch, Nivin Moustafa, Nadine Damouny-Naoum, Yam Amir, Lital Sharvit, Rihan Moghrabi, Gamal Hassoun, Fuad Fares, Hagit Baris Feldman, Gil Atzmon

    Diterbitkan 2024-09-01
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  7. 7
    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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  8. 8
    Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels

    Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels oleh Yaron Einhorn, Moshe Einhorn, Alina Kurolap, Dror Steinberg, Adi Mory, Lily Bazak, Tamar Paperna, Julia Grinshpun-Cohen, Lina Basel-Salmon, Karin Weiss, Amihood Singer, Yuval Yaron, Hagit Baris Feldman

    Diterbitkan 2023-03-01
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  9. 9
    A Novel Homozygous In-Frame Deletion in Complement Factor 3 Underlies Early-Onset Autosomal Recessive Atypical Hemolytic Uremic Syndrome - Case Report

    A Novel Homozygous In-Frame Deletion in Complement Factor 3 Underlies Early-Onset Autosomal Recessive Atypical Hemolytic Uremic Syndrome - Case Report oleh Shirley Pollack, Shirley Pollack, Israel Eisenstein, Adi Mory, Tamar Paperna, Ayala Ofir, Hagit Baris-Feldman, Karin Weiss, Nóra Veszeli, Dorottya Csuka, Revital Shemer, Fabian Glaser, Zoltán Prohászka, Daniella Magen, Daniella Magen

    Diterbitkan 2021-06-01
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  10. 10
    Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

    Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder oleh Marisa W. Friederich, Sharita Timal, Christopher A. Powell, Cristina Dallabona, Alina Kurolap, Sara Palacios-Zambrano, Drago Bratkovic, Terry G. J. Derks, David Bick, Katelijne Bouman, Kathryn C. Chatfield, Nadine Damouny-Naoum, Megan K. Dishop, Tzipora C. Falik-Zaccai, Fuad Fares, Ayalla Fedida, Ileana Ferrero, Renata C. Gallagher, Rafael Garesse, Micol Gilberti, Cristina González, Katherine Gowan, Clair Habib, Rebecca K. Halligan, Limor Kalfon, Kaz Knight, Dirk Lefeber, Laura Mamblona, Hanna Mandel, Adi Mory, John Ottoson, Tamar Paperna, Ger J. M. Pruijn, Pedro F. Rebelo-Guiomar, Ann Saada, Bruno Sainz, Hayley Salvemini, Mirthe H. Schoots, Jan A. Smeitink, Maciej J. Szukszto, Hendrik J. ter Horst, Frans van den Brandt, Francjan J. van Spronsen, Joris A. Veltman, Eric Wartchow, Liesbeth T. Wintjes, Yaniv Zohar, Miguel A. Fernández-Moreno, Hagit N. Baris, Claudia Donnini, Michal Minczuk, Richard J. Rodenburg, Johan L. K. Van Hove

    Diterbitkan 2018-10-01
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