Showing 1 - 12 results of 12 for search 'Ben Pode-Shakked', query time: 0.05s
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Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene by Dina Marek-Yagel, Dina Marek-Yagel, Shachar Abudi-Sinreich, Shachar Abudi-Sinreich, Michal Macarov, Alvit Veber, Nechama Shalva, Amit Mary Philosoph, Ben Pode-Shakked, Ben Pode-Shakked, Ben Pode-Shakked, May Christine V. Malicdan, May Christine V. Malicdan, Yair Anikster, Yair Anikster, Yair Anikster
Published 2022-08-01
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Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment: A case report and review of the literature by Sharon Katz, Yuval Landau, Ben Pode-Shakked, Itai M. Pessach, Marina Rubinshtein, Yair Anikster, Yishay Salem, Gideon Paret
Published 2017-03-01
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Hereditary neuropathy with liability to pressure palsies (HNPP): Intrafamilial phenotypic variability and early childhood refusal to walk as the presenting symptom by Shani Karklinsky, Shir Kugler, Omer Bar-Yosef, Andreea Nissenkorn, Anat Grossman-Jonish, Irit Tirosh, Asaf Vivante, Ben Pode-Shakked
Published 2022-06-01
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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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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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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 2019-03-01
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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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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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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 2019-07-01
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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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