Torthaí cuardaigh - Pode-Shakked, Ben

Multiple Acyl-CoA Dehydrogenase Deficiency with Variable Presentation Due to a Homozygous Mutation in a Bedouin Tribe de réir Staretz-Chacham, Orna, Amar, Shirly, Almashanu, Shlomo, Pode-Shakked, Ben, Saada, Ann, Wormser, Ohad, Hershkovitz, Eli

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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 de réir Katz, Sharon, Landau, Yuval, Pode-Shakked, Ben, Pessach, Itai M., Rubinshtein, Marina, Anikster, Yair, Salem, Yishay, Paret, Gideon

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Glutaric Aciduria type I and acute renal failure — Coincidence or causality? de réir Pode-Shakked, Ben, Marek-Yagel, Dina, Rubinshtein, Marina, Pessach, Itai M., Paret, Gideon, Volkov, Alexander, Anikster, Yair, Lotan, Danny

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The Effects of a Ketogenic Diet on Patients with Dihydrolipoamide Dehydrogenase Deficiency de réir Staretz-Chacham, Orna, Pode-Shakked, Ben, Kristal, Eyal, Abraham, Smadar Yaala, Porper, Keren, Wormser, Ohad, Shelef, Ilan, Anikster, Yair

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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 de réir Karklinsky, Shani, Kugler, Shir, Bar-Yosef, Omer, Nissenkorn, Andreea, Grossman-Jonish, Anat, Tirosh, Irit, Vivante, Asaf, Pode-Shakked, Ben

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

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What Can We Learn from the Parents of Children Affected with Mucopolysaccharidosis Type III-A in Israel? de réir Liber, Shiri, Staretz-Chacham, Orna, Kishon, Mor, Pode-Shakked, Ben, Chorin, Odelia, Kneller, Katya, Anikster, Yair, Mangisto, Geto, Saada, Ann, Raas-Rothschild, Annick

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

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Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome de réir Ta-Shma, Asaf, Khan, Tahir N., Vivante, Asaf, Willer, Jason R., Matak, Pavle, Jalas, Chaim, Pode-Shakked, Ben, Salem, Yishay, Anikster, Yair, Hildebrandt, Friedhelm, Katsanis, Nicholas, Elpeleg, Orly, Davis, Erica E.

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A Dominant Negative Heterozygous G87R Mutation in the Zinc Transporter, ZnT-2 (SLC30A2), Results in Transient Neonatal Zinc Deficiency de réir Lasry, Inbal, Seo, Young Ah, Ityel, Hadas, Shalva, Nechama, Pode-Shakked, Ben, Glaser, Fabian, Berman, Bluma, Berezovsky, Igor, Goncearenco, Alexander, Klar, Aharon, Levy, Jacob, Anikster, Yair, Kelleher, Shannon L., Assaraf, Yehuda G.

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Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome de réir Staretz-Chacham, Orna, Shukrun, Rachel, Barel, Ortal, Pode-Shakked, Ben, Pleniceanu, Oren, Anikster, Yair, Shalva, Nechama, Ferreira, Carlos R., Kadosh, Admit Ben-Haim, Richardson, Justin, Mane, Shrikant M., Hildebrandt, Friedhelm, Vivante, Asaf

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

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Dissecting Stages of Human Kidney Development and Tumorigenesis with Surface Markers Affords Simple Prospective Purification of Nephron Stem Cells de réir Pode-Shakked, Naomi, Pleniceanu, Oren, Gershon, Rotem, Shukrun, Rachel, Kanter, Itamar, Bucris, Efrat, Pode-Shakked, Ben, Tam, Gal, Tam, Hadar, Caspi, Revital, Pri-Chen, Sara, Vax, Einav, Katz, Guy, Omer, Dorit, Harari-Steinberg, Orit, Kalisky, Tomer, Dekel, Benjamin

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Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families de réir Greenbaum, Lior, Pode-Shakked, Ben, Eisenberg-Barzilai, Shlomit, Dicastro-Keidar, Michal, Bar-Ziv, Anat, Goldstein, Nurit, Reznik-Wolf, Haike, Poran, Hana, Rigbi, Amihai, Barel, Ortal, Bertoli-Avella, Aida M., Bauer, Peter, Regev, Miriam, Raas-Rothschild, Annick, Pras, Elon, Berkenstadt, Michal

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

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Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations de réir Stephen, Joshi, Vilboux, Thierry, Haberman, Yael, Pri-Chen, Hadass, Pode-Shakked, Ben, Mazaheri, Sina, Marek-Yagel, Dina, Barel, Ortal, Di Segni, Ayelet, Eyal, Eran, Hout-Siloni, Goni, Lahad, Avishay, Shalem, Tzippora, Rechavi, Gideon, Malicdan, May Christine V, Weiss, Batia, Gahl, William A, Anikster, Yair

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Exome sequencing in Jewish and Arabic patients with rhabdomyolysis reveals single-gene etiology in 43% of cases de réir Vivante, Asaf, Ityel, Hadas, Pode-Shakked, Ben, Chen, Jing, Shril, Shirlee, van der Ven, Amelie T., Mann, Nina, Schmidt, Johanna Magdalena, Segel, Reeval, Aran, Adi, Zeharia, Avraham, Staretz-Chacham, Orna, Bar-Yosef, Omer, Raas-Rothschild, Annick, Landau, Yuval E., Lifton, Richard P., Anikster, Yair, Hildebrandt, Friedhelm

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

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Enhanced Collagen Deposition in the Duodenum of Patients with Hyaline Fibromatosis Syndrome and Protein Losing Enteropathy de réir van Rijn, Jorik M., Werner, Lael, Aydemir, Yusuf, Spronck, Joey M.A., Pode-Shakked, Ben, van Hoesel, Marliek, Shimshoni, Elee, Polak-Charcon, Sylvie, Talmi, Liron, Eren, Makbule, Weiss, Batia, H.J. Houwen, Roderick, Barshack, Iris, Somech, Raz, Nieuwenhuis, Edward E.S., Sagi, Irit, Raas-Rothschild, Annick, Middendorp, Sabine, Shouval, Dror S.

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Acid-induced downregulation of ASS1 contributes to the maintenance of intracellular pH in cancer de réir Silberman, Alon, Goldman, Omer, Assayag, Odeya Boukobza, Jacob, Adi, Rabinovich, Shiran, Adler, Lital, Sang Lee, Joo, Keshet, Rom, Sarver, Alona, Frug, Julia, Stettner, Noa, Galai, Sivan, Persi, Erez, Bahar Halpern, Keren, Zaltsman-Amir, Yehudit, Pode-Shakked, Ben, Eilam, Raya, Anikster, Yair, Nagamani, Sandesh CS, Ulitsky, Igor, Ruppin, Eytan, Erez, Ayelet

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