Search Results - Hershkovitz, Eli
- Showing 1 - 19 results of 19
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Multiple Acyl-CoA Dehydrogenase Deficiency with Variable Presentation Due to a Homozygous Mutation in a Bedouin Tribe by Staretz-Chacham, Orna, Amar, Shirly, Almashanu, Shlomo, Pode-Shakked, Ben, Saada, Ann, Wormser, Ohad, Hershkovitz, Eli
Published 2021Text -
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Homozygous Mutation G539R in the Gene for P450 Oxidoreductase in a Family Previously Diagnosed as Having 17,20-Lyase Deficiency by Hershkovitz, Eli, Parvari, Ruthi, Wudy, Stefan A., Hartmann, Michaela F., Gomes, Larissa G., Loewental, Neta, Miller, Walter L.
Published 2008Text -
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Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion by Elpeleg, Orly, Miller, Chaya, Hershkovitz, Eli, Bitner-Glindzicz, Maria, Bondi-Rubinstein, Gili, Rahman, Shamima, Pagnamenta, Alistair, Eshhar, Sharon, Saada, Ann
Published 2005Text -
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Autosomal-Recessive Hypophosphatemic Rickets Is Associated with an Inactivation Mutation in the ENPP1 Gene by Levy-Litan, Varda, Hershkovitz, Eli, Avizov, Luba, Leventhal, Neta, Bercovich, Dani, Chalifa-Caspi, Vered, Manor, Esther, Buriakovsky, Sophia, Hadad, Yair, Goding, James, Parvari, Ruti
Published 2010Text -
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Varied Clinical Presentations of Seven Patients With Mutations in CYP11A1 Encoding the Cholesterol Side-Chain Cleavage Enzyme, P450scc by 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.
Published 2013Text -
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Hypoparathyroidism-retardation-dysmorphism syndrome—Clinical insights from a large longitudinal cohort in a single medical center by 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
Published 2022Text -
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Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function by 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
Published 2015Text -
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Domain III of the T. thermophilus 23S rRNA folds independently to a near-native state by 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
Published 2012Text -
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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-... by 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
Published 2019Text -
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The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel by 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
Published 2021Text -
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Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease by 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.
Published 2012Text -
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Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism by 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.
Published 2017Text