Showing 1 - 12 results of 12 for search 'Annick Raas-Rothschild', query time: 0.05s
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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 2020-07-01
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Long-Term Outcomes of Early Enzyme Replacement Therapy for Mucopolysaccharidosis IV: Clinical Case Studies of Two Siblings by Sharon Barak, Yair Anikster, Ifat Sarouk, Eve Stern, Etzyona Eisenstein, Tamar Yissar, Nir Sherr-Lurie, Annick Raas-Rothschild, Dafna Guttman
Published 2020-02-01
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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 2019-06-01
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Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families by Lior Greenbaum, Lior Greenbaum, Lior Greenbaum, Ben Pode-Shakked, Ben Pode-Shakked, Shlomit Eisenberg-Barzilai, Michal Dicastro-Keidar, Anat Bar-Ziv, Nurit Goldstein, Haike Reznik-Wolf, Hana Poran, Amihai Rigbi, Ortal Barel, Aida M. Bertoli-Avella, Peter Bauer, Miriam Regev, Miriam Regev, Annick Raas-Rothschild, Annick Raas-Rothschild, Elon Pras, Elon Pras, Michal Berkenstadt, Michal Berkenstadt
Published 2019-06-01
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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 2021-09-01
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Vici syndrome in Israel: Clinical and molecular insights by Odelia Chorin, Odelia Chorin, Odelia Chorin, Yoel Hirsch, Rachel Rock, Rachel Rock, Rachel Rock, Liat Salzer Sheelo, Liat Salzer Sheelo, Yael Goldberg, Yael Goldberg, Hanna Mandel, Hanna Mandel, Tova Hershkovitz, Tova Hershkovitz, Nicole Fleischer, Lior Greenbaum, Lior Greenbaum, Lior Greenbaum, Uriel Katz, Uriel Katz, Ortal Barel, Ortal Barel, Nasrin Hamed, Nasrin Hamed, Bruria Ben-Zeev, Bruria Ben-Zeev, Shoshana Greenberger, Shoshana Greenberger, Shoshana Greenberger, Nadra Nasser Samra, Nadra Nasser Samra, Michal Stern Zimmer, Michal Stern Zimmer, Michal Stern Zimmer, Annick Raas-Rothschild, Annick Raas-Rothschild, Ben Pode-Shakked, Ben Pode-Shakked, Ben Pode-Shakked
Published 2022-09-01
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New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes by Sabiha Abekhoukh, H. Bahar Sahin, Mauro Grossi, Samantha Zongaro, Thomas Maurin, Irene Madrigal, Daniele Kazue-Sugioka, Annick Raas-Rothschild, Mohamed Doulazmi, Pilar Carrera, Andrea Stachon, Steven Scherer, Maria Rita Drula Do Nascimento, Alain Trembleau, Ignacio Arroyo, Peter Szatmari, Isabel M. Smith, Montserrat Milà, Adam C. Smith, Angela Giangrande, Isabelle Caillé, Barbara Bardoni
Published 2017-04-01
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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 2023-01-01
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A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies by Ben Pode-Shakked, Ortal Barel, Amihood Singer, Miriam Regev, Hana Poran, Aviva Eliyahu, Yael Finezilber, Meirav Segev, Michal Berkenstadt, Hagith Yonath, Haike Reznik-Wolf, Yael Gazit, Odelia Chorin, Gali Heimer, Lidia V. Gabis, Michal Tzadok, Andreea Nissenkorn, Omer Bar-Yosef, Efrat Zohar-Dayan, Bruria Ben-Zeev, Nofar Mor, Nitzan Kol, Omri Nayshool, Noam Shimshoviz, Ifat Bar-Joseph, Dina Marek-Yagel, Elisheva Javasky, Reviva Einy, Moran Gal, Julia Grinshpun-Cohen, Mordechai Shohat, Dan Dominissini, Annick Raas-Rothschild, Gideon Rechavi, Elon Pras, Lior Greenbaum
Published 2021-09-01
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10
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 2023-06-01
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11
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 2023-06-01
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EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum by Ulrike Hüffmeier, Cornelia Kraus, Miriam S. Reuter, Steffen Uebe, Mary-Alice Abbott, Syed A. Ahmed, Kristyn L. Rawson, Eileen Barr, Hong Li, Ange-Line Bruel, Laurence Faivre, Frédéric Tran Mau-Them, Christina Botti, Susan Brooks, Kaitlyn Burns, D. Isum Ward, Marina Dutra-Clarke, Julian A. Martinez-Agosto, Hane Lee, Stanley F. Nelson, UCLA California Center for Rare Disease, Pia Zacher, Rami Abou Jamra, Chiara Klöckner, Julie McGaughran, Jürgen Kohlhase, Sarah Schuhmann, Ellen Moran, John Pappas, Annick Raas-Rothschild, Maria J. Guillen Sacoto, Lindsay B. Henderson, Timothy Blake Palculict, Sureni V. Mullegama, Houda Zghal Elloumi, Adi Reich, Samantha A. Schrier Vergano, Erica Wahl, André Reis, Christiane Zweier
Published 2021-03-01
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