Search Results - Annick Raas-Rothschild

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  1. 1

    Correction: Barak, S. et al. “Long-Term Outcomes of Early Enzyme Replacement Therapy for Mucopolysaccharidosis IV: Clinical Case Studies of Two Siblings”. <i>Diagnostics</i> 2020,... by Sharon Barak, Yair Anikster, Ifat Sarouk, Eve Stern, Etzyona Eisenstein, Tamar Yissar, Nir Sherr-Lurie, Annick Raas-Rothschild, Dafna Guttman

    Published in Diagnostics (2020-07-01)
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  2. 2

    BRPF1‐associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family by Naomi Pode‐Shakked, Ortal Barel, Ben Pode‐Shakked, Aviva Eliyahu, Amihood Singer, Omri Nayshool, Nitzan Kol, Annick Raas‐Rothschild, Elon Pras, Mordechai Shohat

    Published in Molecular Genetics & Genomic Medicine (2019-06-01)
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  3. 3

    The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel by Eyal Kristal, Ben Pode-Shakked, Guy Hazan, Ehud Banne, Galina Ling, Odeya David, Eilon Shany, Annick Raas-Rothschild, Yair Anikster, Katya Kneller, Eli Hershkovitz, Yuval E. Landau, Ronen Spiegel, Yoav Zehavi, Orna Staretz-Chacham

    Published in Orphanet Journal of Rare Diseases (2021-09-01)
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  4. 4

    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 in Frontiers in Pediatrics (2022-03-01)
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  5. 5

    Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders by Maayan Kagan, Maayan Kagan, Maayan Kagan, Rotem Semo-Oz, Rotem Semo-Oz, Rotem Semo-Oz, Yishay Ben Moshe, Yishay Ben Moshe, Danit Atias-Varon, Irit Tirosh, Irit Tirosh, Irit Tirosh, Michal Stern-Zimmer, Michal Stern-Zimmer, Aviva Eliyahu, Aviva Eliyahu, Annick Raas-Rothschild, Annick Raas-Rothschild, Maayan Bivas, Maayan Bivas, Omer Shlomovitz, Omer Shlomovitz, Odelia Chorin, Odelia Chorin, Odelia Chorin, Rachel Rock, Rachel Rock, Rachel Rock, Michal Tzadok, Michal Tzadok, Bruria Ben-Zeev, Bruria Ben-Zeev, Gali Heimer, Gali Heimer, Gali Heimer, Yoav Bolkier, Yoav Bolkier, Noah Gruber, Noah Gruber, Noah Gruber, Adi Dagan, Adi Dagan, Adi Dagan, Bat El Bar Aluma, Bat El Bar Aluma, Bat El Bar Aluma, Itai M. Pessach, Itai M. Pessach, Itai M. Pessach, Gideon Rechavi, Gideon Rechavi, Gideon Rechavi, Ortal Barel, Ortal Barel, Ortal Barel, Ben Pode-Shakked, Ben Pode-Shakked, Ben Pode-Shakked, Ben Pode-Shakked, Yair Anikster, Yair Anikster, Yair Anikster, Asaf Vivante, Asaf Vivante, Asaf Vivante, Asaf Vivante

    Published in Frontiers in Genetics (2023-01-01)
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  6. 6

    Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects by Katie L. Ayers, Stefanie Eggers, Ben N. Rollo, Katherine R. Smith, Nadia M. Davidson, Nicole A. Siddall, Liang Zhao, Josephine Bowles, Karin Weiss, Ginevra Zanni, Lydie Burglen, Shay Ben-Shachar, Jenny Rosensaft, Annick Raas-Rothschild, Anne Jørgensen, Ralf B. Schittenhelm, Cheng Huang, Gorjana Robevska, Jocelyn van den Bergen, Franca Casagranda, Justyna Cyza, Svenja Pachernegg, David K. Wright, Melanie Bahlo, Alicia Oshlack, Terrence J. O’Brien, Patrick Kwan, Peter Koopman, Gary R. Hime, Nadine Girard, Chen Hoffmann, Yuval Shilon, Amnon Zung, Enrico Bertini, Mathieu Milh, Bochra Ben Rhouma, Neila Belguith, Anu Bashamboo, Kenneth McElreavey, Ehud Banne, Naomi Weintrob, Bruria BenZeev, Andrew H. Sinclair

    Published in Nature Communications (2023-06-01)
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  7. 7

    Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects by Katie L. Ayers, Stefanie Eggers, Ben N. Rollo, Katherine R. Smith, Nadia M. Davidson, Nicole A. Siddall, Liang Zhao, Josephine Bowles, Karin Weiss, Ginevra Zanni, Lydie Burglen, Shay Ben-Shachar, Jenny Rosensaft, Annick Raas-Rothschild, Anne Jørgensen, Ralf B. Schittenhelm, Cheng Huang, Gorjana Robevska, Jocelyn van den Bergen, Franca Casagranda, Justyna Cyza, Svenja Pachernegg, David K. Wright, Melanie Bahlo, Alicia Oshlack, Terrence J. O’Brien, Patrick Kwan, Peter Koopman, Gary R. Hime, Nadine Girard, Chen Hoffmann, Yuval Shilon, Amnon Zung, Enrico Bertini, Mathieu Milh, Bochra Ben Rhouma, Neila Belguith, Anu Bashamboo, Kenneth McElreavey, Ehud Banne, Naomi Weintrob, Bruria BenZeev, Andrew H. Sinclair

    Published in Nature Communications (2023-06-01)
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