Ngā hua rapu - Ortal Barel

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

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Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature mā 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

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Novel NHEJ1 pathogenic variant linked to severe combined immunodeficiency, microcephaly, and abnormal T and B cell receptor repertoires mā 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

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Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay mā 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

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Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies mā 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

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