Dataset Growth in Medical Image Analysis Research von Kiryati, Nahum, Landau, Yuval

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Long COVID‐19 Liver Manifestation in Children von Cooper, Shiri, Tobar, Ana, Konen, Osnat, Orenstein, Naama, Kropach Gilad, Nesia, Landau, Yuval E., Mozer‐Glassberg, Yael, Bar‐Lev, Michal Rozenfeld, Shaoul, Ron, Shamir, Raanan, Waisbourd‐Zinman, Orith

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A novel SLC25A13 gene splice site variant causes Citrin deficiency in an infant von Sachs, Nimrod, Wechsberg, Oded, Landau, Yuval E., Krause, Irit, Elgali, Ifat Israel, Darawshe, Malak, Shomron, Noam, Lidzbarsky, Gabriel, Orenstein, Naama

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Genomics in Newborn Screening von Landau, Yuval E., MD, PhD, Lichter-Konecki, Uta, MD, PhD, Levy, Harvey L., MD

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The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel von 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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Clinical score for early diagnosis and treatment of stroke-like episodes in MELAS syndrome von Naftali, Jonathan, Mermelstein, Maor, Landau, Yuval E., Barnea, Rani, Shelly, Shahar, Auriel, Eitan, Peretz, Shlomi

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Long-term outcome of expanded newborn screening at Boston children’s hospital: benefits and challenges in defining true disease von Landau, Yuval E., Waisbren, Susan E., Chan, Lawrence M. A., Levy, Harvey L.

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The natural history of dihydrolipoamide dehydrogenase deficiency in Israel von Pode‐Shakked, Ben, Landau, Yuval E., Shaul Lotan, Nava, Manor, Joshua, Haham, Nitsan, Kristal, Eyal, Hershkovitz, Eli, Hazan, Guy, Haham, Yarden, Almashanu, Shlomo, Anikster, Yair, Staretz‐Chacham, Orna

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Biallelic hypomorphic variants in CAD cause uridine-responsive macrocytic anaemia with elevated haemoglobin-A2 von Steinberg-Shemer, Orna, Yacobovich, Joanne, Noy-Lotan, Sharon, Dgany, Orly, Krasnov, Tanya, Barg, Assaf, Landau, Yuval E, Kneller, Katya, Somech, Raz, Gilad, Oded, Brik Simon, Dafna, Orenstein, Naama, Izraeli, Shai, Del Caño-Ochoa, Francisco, Tamary, Hannah, Ramón-Maiques, Santiago

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Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newborns von Rock, Rachel, Rock, Oded, Daas, Suha, Biton-Regev, Vered, Sagiv, Nadav, Salah, Nasser Abu, Anikster, Yair, Barel, Ortal, Cohen, Ronen Hady, Dumin, Elena, Fattal-Valevski, Aviva, Falik-Zaccai, Tzipora, Herskovitz, Eli, Josefsberg, Sagi, Khammash, Hatem, Kneller, Katya, Korman, Stanley H, Landau, Yuval E, Lerman-Sagie, Tally, Mandel, Hanna, Pras, Elon, Reznik-Wolf, Haike, Shaag, Avraham, Lotan, Nava Shaul, Spiegel, Ronen, Tal, Galit, Staretz-Chacham, Orna, Wilnai, Yael, Almashanu, Shlomo

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Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases von 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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Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency von Aldrian, Denise, Waldner, Birgit, Vogel, Georg F., El‐Gharbawy, Areeg H., McKiernan, Patrick, Vockley, Jerard, Landau, Yuval E., Al Mutairi, Fuad, Stepien, Karolina M., Kwok, Anne Mei‐Kwun, Yıldız, Yılmaz, Honzik, Tomas, Kelifova, Silvie, Ellaway, Carolyn, Lund, Allan M., Mori, Mari, Grünert, Sarah C., Scholl‐Bürgi, Sabine, Zöggeler, Thomas, Oberhuber, Rupert, Schneeberger, Stefan, Müller, Thomas, Karall, Daniela

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Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease von Landau, Yuval E., Heimer, Gali, Barel, Ortal, Shalva, Nechama, Marek-Yagel, Dina, Veber, Alvit, Javasky, Elisheva, Shilon, Aya, Nissenkorn, Andreea, Ben-Zeev, Bruria, Anikster, Yair

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Pediatric Neurologic Complications Associated With Influenza A H1N1 von Landau, Yuval E., MD, PhD, Grisaru-Soen, Galia, MD, Reif, Shimon, MD, Fattal-Valevski, Aviva, MD, MHA

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Hereditary orotic aciduria identified by newborn screening von Staretz-Chacham, Orna, Damseh, Nadirah S, Daas, Suha, Abu Salah, Nasser, Anikster, Yair, Barel, Ortal, Dumin, Elena, Fattal-Valevski, Aviva, Falik-Zaccai, Tzipora C, Hershkovitz, Eli, Josefsberg, Sagi, Landau, Yuval, Lerman-Sagie, Tally, Mandel, Hanna, Rock, Rachel, Rostami, Nira, Saraf-Levy, Talya, Shaul Lotan, Nava, Spiegel, Ronen, Tal, Galit, Ulanovsky, Igor, Wilnai, Yael, Korman, Stanley H, Almashanu, Shlomo

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Management of children with nonfebrile seizures in the emergency department von Landau, Yuval E, Waisman, Yehezkel, Shuper, Avinoam

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

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Recurrent unexplained hyperammonemia in an adolescent with arginase deficiency von Zhang, Yan, Landau, Yuval E., Miller, David T., Marsden, Deborah, Berry, Gerard T., Kellogg, Mark D.

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Arteriovenous fistula and portal hypertension in a child with Down syndrome von Landau, Yuval E, Schwarz, Michael, Belenky, Alexander, Shapiro, Rivka, Amir, Jacob

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Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability von Anikster, Yair, Haack, Tobias B., Vilboux, Thierry, Pode-Shakked, Ben, Thöny, Beat, Shen, Nan, Guarani, Virginia, Meissner, Thomas, Mayatepek, Ertan, Trefz, Friedrich K., Marek-Yagel, Dina, Martinez, Aurora, Huttlin, Edward L., Paulo, Joao A., Berutti, Riccardo, Benoist, Jean-François, Imbard, Apolline, Dorboz, Imen, Heimer, Gali, Landau, Yuval, Ziv-Strasser, Limor, Malicdan, May Christine V., Gemperle-Britschgi, Corinne, Cremer, Kirsten, Engels, Hartmut, Meili, David, Keller, Irene, Bruggmann, Rémy, Strom, Tim M., Meitinger, Thomas, Mullikin, James C., Schwartz, Gerard, Ben-Zeev, Bruria, Gahl, William A., Harper, J. Wade, Blau, Nenad, Hoffmann, Georg F., Prokisch, Holger, Opladen, Thomas, Schiff, Manuel

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