Výsledky vyhledávání - Hershkovitz, Eli

Statistical Analysis of RNA Backbone Autor Hershkovitz, Eli, Sapiro, Guillermo, Tannenbaum, Allen, Williams, Loren Dean

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Delayed Neuropsychiatric Sequel Following Pediatric Carbon Monoxide Poisoning: A Case Report and Literature Review Autor Gavrieli, Hila, Noyman, Iris, Hershkovitz, Eli, Taragin, Benjamin, Hazan, Guy

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Single nucleotide RNA choreography Autor Hsiao, Chiaolong, Mohan, Srividya, Hershkovitz, Eli, Tannenbaum, Allen, Williams, Loren Dean

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A Recessive Contiguous Gene Deletion of Chromosome 2p16 Associated with Cystinuria and a Mitochondrial Disease Autor Parvari, Ruti, Brodyansky, Irena, Elpeleg, Orly, Moses, Shimon, Landau, Daniel, Hershkovitz, Eli

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Automated identification of RNA conformational motifs: theory and application to the HM LSU 23S rRNA Autor Hershkovitz, Eli, Tannenbaum, Emmanuel, Howerton, Shelley B., Sheth, Ajay, Tannenbaum, Allen, Williams, Loren Dean

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Human Calmodulin Methyltransferase: Expression, Activity on Calmodulin, and Hsp90 Dependence Autor Magen, Sophia, Magnani, Roberta, Haziza, Sitvanit, Hershkovitz, Eli, Houtz, Robert, Cambi, Franca, Parvari, Ruti

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

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Homozygous Mutation G539R in the Gene for P450 Oxidoreductase in a Family Previously Diagnosed as Having 17,20-Lyase Deficiency Autor Hershkovitz, Eli, Parvari, Ruthi, Wudy, Stefan A., Hartmann, Michaela F., Gomes, Larissa G., Loewental, Neta, Miller, Walter L.

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TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews Autor Shaki, David, Eskin-Schwartz, Marina, Hadar, Noam, Bosin, Emily, Carmon, Lior, Refetoff, Samuel, Hershkovitz, Eli, Birk, Ohad S, Haim, Alon

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Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion Autor Elpeleg, Orly, Miller, Chaya, Hershkovitz, Eli, Bitner-Glindzicz, Maria, Bondi-Rubinstein, Gili, Rahman, Shamima, Pagnamenta, Alistair, Eshhar, Sharon, Saada, Ann

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Autosomal-Recessive Hypophosphatemic Rickets Is Associated with an Inactivation Mutation in the ENPP1 Gene Autor Levy-Litan, Varda, Hershkovitz, Eli, Avizov, Luba, Leventhal, Neta, Bercovich, Dani, Chalifa-Caspi, Vered, Manor, Esther, Buriakovsky, Sophia, Hadad, Yair, Goding, James, Parvari, Ruti

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Varied Clinical Presentations of Seven Patients With Mutations in CYP11A1 Encoding the Cholesterol Side-Chain Cleavage Enzyme, P450scc Autor Tee, Meng Kian, Abramsohn, Michal, Loewenthal, Neta, Harris, Mark, Siwach, Sudeep, Kaplinsky, Ana, Markus, Barak, Birk, Ohad, Sheffield, Val C., Pavari, Ruti, Hershkovitz, Eli, Miller, Walter L.

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Hypoparathyroidism-retardation-dysmorphism syndrome—Clinical insights from a large longitudinal cohort in a single medical center Autor David, Odeya, Agur, Rotem, Novoa, Rosa, Shaki, David, Walker, Dganit, Carmon, Lior, Eskin-Schwartz, Marina, Birk, Ohad S., Ling, Galina, Schreiber, Ruth, Loewenthal, Neta, Haim, Alon, Hershkovitz, Eli

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Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function Autor Haziza, Sitvanit, Magnani, Roberta, Lan, Dima, Keinan, Omer, Saada, Ann, Hershkovitz, Eli, Yanay, Nurit, Cohen, Yoram, Nevo, Yoram, Houtz, Robert L., Sheffield, Val C., Golan, Hava, Parvari, Ruti

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Domain III of the T. thermophilus 23S rRNA folds independently to a near-native state Autor Athavale, Shreyas S., Gossett, J. Jared, Hsiao, Chiaolong, Bowman, Jessica C., O'Neill, Eric, Hershkovitz, Eli, Preeprem, Thanawadee, Hud, Nicholas V., Wartell, Roger M., Harvey, Stephen C., Williams, Loren Dean

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A Phase II, Double-Blind, Randomized, Placebo-Controlled, Multicenter Study Evaluating the Efficacy and Safety of Alpha-1 Antitrypsin (AAT) (Glassia(®)) in the Treatment of Recent-... Autor Lebenthal, Yael, Brener, Avivit, Hershkovitz, Eli, Shehadeh, Naim, Shalitin, Shlomit, Lewis, Eli C., Elias, Dana, Haim, Alon, Barash, Galia, Loewenthal, Neta, Zuckerman-Levin, Nehama, Stein, Michal, Tov, Naveh, Rachmiel, Marianna

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The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel Autor 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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Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease Autor Messinger, Yoav H., Mendelsohn, Nancy J., Rhead, William, Dimmock, David, Hershkovitz, Eli, Champion, Michael, Jones, Simon A., Olson, Rebecca, White, Amy, Wells, Cara, Bali, Deeksha, Case, Laura E., Young, Sarah P., Rosenberg, Amy S., Kishnani, Priya S.

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Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism Autor Badiu, Corin, Bonomi, Marco, Borshchevsky, Ivan, Cools, Martine, Craen, Margarita, Ghervan, Cristina, Hauschild, Michael, Hershkovitz, Eli, Hrabovszky, Erik, Juul, Anders, Kim, Soo-Hyun, Kumanov, Phillip, Lecumberri, Beatriz, Lemos, Manuel C., Neocleous, Vassos, Niedziela, Marek, Djurdjevic, Sandra Pekic, Persani, Luca, Phan-Hug, Franziska, Pignatelli, Duarte, Pitteloud, Nelly, Popovic, Vera, Quinton, Richard, Skordis, Nicos, Smith, Neil, Stefanija, Magdalena Avbelj, Xu, Cheng, Young, Jacques, Dwyer, Andrew A.

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