Showing 1 - 5 results of 5 for search 'Ortal Barel', query time: 0.03s Refine Results
  1. 1
    TRMT10A Mutation in a Child with Diabetes, Short Stature, Microcephaly and Hypoplastic Kidneys

    TRMT10A Mutation in a Child with Diabetes, Short Stature, Microcephaly and Hypoplastic Kidneys by Eve Stern, Asaf Vivante, Ortal Barel, Yael Levy-Shraga

    Published 2022
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  2. 2
    Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature

    Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature by Ben Pode-Shakked, Asaf Vivante, Ortal Barel, Shai Padeh, Dina Marek-Yagel, Alvit Veber, Shachar Abudi, Aviva Eliyahu, Irit Tirosh, Shiri Shpilman, Shirlee Shril, Friedhelm Hildebrandt, Mordechai Shohat, Yair Anikster

    Published 2019
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  3. 3
    Novel NHEJ1 pathogenic variant linked to severe combined immunodeficiency, microcephaly, and abnormal T and B cell receptor repertoires

    Novel NHEJ1 pathogenic variant linked to severe combined immunodeficiency, microcephaly, and abnormal T and B cell receptor repertoires by Shirly Frizinsky, Shirly Frizinsky, Erez Rechavi, Erez Rechavi, Ortal Barel, Yu Nee Lee, Yu Nee Lee, Amos J. Simon, Amos J. Simon, Atar Lev, Atar Lev, Tali Stauber, Tali Stauber, Tali Stauber, Etai Adam, Raz Somech, Raz Somech, Raz Somech

    Published 2022
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  4. 4
    Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay

    Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay by Aviva Eliyahu, Aviva Eliyahu, Ortal Barel, Ortal Barel, Lior Greenbaum, Lior Greenbaum, Lior Greenbaum, Gal Zaks Hoffer, Gal Zaks Hoffer, Yael Goldberg, Yael Goldberg, Annick Raas-Rothschild, Annick Raas-Rothschild, Amihood Singer, Ifat Bar-Joseph, Ifat Bar-Joseph, Vered Kunik, Elisheva Javasky, Elisheva Javasky, Orna Staretz-Chacham, Orna Staretz-Chacham, Naomi Pode-Shakked, Naomi Pode-Shakked, Naomi Pode-Shakked, Lily Bazak, Lily Bazak, Lily Bazak, Noa Ruhrman-Shahar, Noa Ruhrman-Shahar, Elon Pras, Elon Pras, Moshe Frydman, Moshe Frydman, Mordechai Shohat, Mordechai Shohat, Ben Pode-Shakked, Ben Pode-Shakked, Ben Pode-Shakked

    Published 2022
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  5. 5
    Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies

    Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies by Irit Tirosh, Shiri Spielman, Ortal Barel, Reut Ram, Tali Stauber, Gideon Paret, Marina Rubinsthein, Itai M. Pessach, Maya Gerstein, Yair Anikster, Rachel Shukrun, Adi Dagan, Katerina Adler, Ben Pode-Shakked, Alexander Volkov, Marina Perelman, Shoshana Greenberger, Raz Somech, Einat Lahav, Amar J. Majmundar, Shai Padeh, Friedhelm Hildebrandt, Asaf Vivante

    Published 2019
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