Novel Susceptibility Genes Drive Familial Non-Medullary Thyroid Cancer in a Large Consanguineous Kindred
Majdalani, Pierre, Yoel, Uri, Nasasra, Tayseer, Fraenkel, Merav, Haim, Alon, Loewenthal, Neta, Zarivach, Raz, Hershkovitz, Eli, Parvari, Ruti
Published in International journal of molecular sciences (04.05.2023)
Published in International journal of molecular sciences (04.05.2023)
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Journal Article
Thyroid function tests in newborns of mothers with hypothyroidism
Haim, Alon, Wainstock, Tamar, Almashanu, Shlomo, Loewenthal, Neta, Sheiner, Eyal, Hershkovitz, Eli, Landau, Daniela
Published in European journal of pediatrics (01.02.2021)
Published in European journal of pediatrics (01.02.2021)
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Journal Article
Essential role of carbonic anhydrase XII in secretory gland fluid and HCO3− secretion revealed by disease causing human mutation
Hong, Jeong Hee, Muhammad, Emad, Zheng, Changyu, Hershkovitz, Eli, Alkrinawi, Soliman, Loewenthal, Neta, Parvari, Ruti, Muallem, Shmuel
Published in The Journal of physiology (15.12.2015)
Published in The Journal of physiology (15.12.2015)
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Journal Article
Air pollution and meteorological conditions during gestation and type 1 diabetes in offspring
Taha-Khalde, Alaa, Haim, Alon, Karakis, Isabella, Shashar, Sagi, Biederko, Ron, Shtein, Alexandra, Hershkovitz, Eli, Novack, Lena
Published in Environment international (01.09.2021)
Published in Environment international (01.09.2021)
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Journal Article
Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation
Berger, Itai, Hershkovitz, Eli, Shaag, Avraham, Edvardson, Simon, Saada, Ann, Elpeleg, Orly
Published in Annals of neurology (01.03.2008)
Published in Annals of neurology (01.03.2008)
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Journal Article
The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel
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 in Orphanet journal of rare diseases (08.09.2021)
Published in Orphanet journal of rare diseases (08.09.2021)
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Journal Article
Generation of iPSC lines from two (BGUi002-A and BGUi003-A) homozygous p450 oxidoreductase-deficient patients and from one (BGUi001-A) heterozygous healthy family relative
Zlotnik, Dor, Rabinski, Tatiana, Ofir, Rivka, Hershkovitz, Eli, Vatine, Gad D.
Published in Stem cell research (01.10.2020)
Published in Stem cell research (01.10.2020)
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Journal Article
GH treatment in pediatric Down syndrome: a systematic review and mini meta-analysis
Shaki, David, Hershkovitz, Eli, Tamam, Shai, Bollotin, Arkadi, David, Odeya, Yalovitsky, Guy, Loewenthal, Neta, Carmon, Lior, Walker, Dganit, Nowak, Raphael, Haim, Alon
Published in Frontiers in endocrinology (Lausanne) (21.04.2023)
Published in Frontiers in endocrinology (Lausanne) (21.04.2023)
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Journal Article
GHRH-GH-IGF1 axis in pediatric Down syndrome: A systematic review and mini meta-analysis
Shaki, David, Hershkovitz, Eli, Tamam, Shai, Bollotin, Arkadi, David, Odeya, Yalovitsky, Guy, Loewenthal, Neta, Carmon, Lior, Walker, Dganit, Haim, Alon
Published in Frontiers in pediatrics (22.02.2023)
Published in Frontiers in pediatrics (22.02.2023)
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Journal Article
Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation
Miller, Chaya, Saada, Ann, Shaul, Nava, Shabtai, Naama, Ben-Shalom, Efrat, Shaag, Avraham, Hershkovitz, Eli, Elpeleg, Orly
Published in Annals of neurology (01.11.2004)
Published in Annals of neurology (01.11.2004)
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Journal Article
Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function
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 in PLoS genetics (01.08.2015)
Published in PLoS genetics (01.08.2015)
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Journal Article
Hereditary orotic aciduria identified by newborn screening
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
Published in Frontiers in genetics (14.03.2023)
Published in Frontiers in genetics (14.03.2023)
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Journal Article
The role of anion gap normalization time in the management of pediatric diabetic ketoacidosis
Lazar, Isaac, Wizeman-Orlov, Dorit, Hazan, Guy, Orbach, Asaf, Haim, Alon, Cavari, Yuval, Feinstein, Yael, Neeman, Eitan, Hershkovitz, Eli, Faingelernt, Yaniv
Published in Frontiers in pediatrics (30.05.2023)
Published in Frontiers in pediatrics (30.05.2023)
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Journal Article
Human calmodulin methyltransferase: expression, activity on calmodulin, and Hsp90 dependence
Magen, Sophia, Magnani, Roberta, Haziza, Sitvanit, Hershkovitz, Eli, Houtz, Robert, Cambi, Franca, Parvari, Ruti
Published in PloS one (20.12.2012)
Published in PloS one (20.12.2012)
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Journal Article
Hypoparathyroidism-retardation-dysmorphism syndrome—Clinical insights from a large longitudinal cohort in a single medical center
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 in Frontiers in pediatrics (22.07.2022)
Published in Frontiers in pediatrics (22.07.2022)
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Journal Article
TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews
Shaki, David, Eskin-Schwartz, Marina, Hadar, Noam, Bosin, Emily, Carmon, Lior, Refetoff, Samuel, Hershkovitz, Eli, Birk, Ohad S, Haim, Alon
Published in European thyroid journal (01.02.2022)
Published in European thyroid journal (01.02.2022)
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Journal Article