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Blood|February 15, 2007
Ineffective erythropoiesis in beta-thalassemia is characterized by increased iron absorption mediated by down-regulation of hepcidin and up-regulation of ferroportinSara Gardenghi, Maria F Marongiu, Pedro Ramos, et al.
Journal of Immunology (Baltimore, Md. : 1950)|November 12, 2017
Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in ARPC1BRaz Somech, Atar Lev, Yu Nee Lee, et al.
European Journal of Human Genetics : EJHG|February 18, 2016
Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutationsJoshi Stephen, Thierry Vilboux, Yael Haberman, et al.
Digestive Diseases and Sciences|February 28, 2018
Genetic and Structural Analysis of a SKIV2L Mutation Causing Tricho-hepato-enteric SyndromeIddo Vardi, Ortal Barel, Michal Sperber, et al.
The Journal of Clinical Investigation|June 4, 2013
MicroRNA-mediated loss of ADAR1 in metastatic melanoma promotes tumor growthYael Nemlich, Eyal Greenberg, Rona Ortenberg, et al.
Journal of the Neurological Sciences|July 5, 2024
The yield of genetic workup for middle-aged and elderly patients with neurological disorders in a real-world settingNoga Lempel, Shahar Shelly, Odelia Chorin, et al.
American Journal of Human Genetics|January 10, 2012
Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1Lina Basel-Vanagaite, Noam Zevit, Adi Har Zahav, et al.
American Journal of Human Genetics|November 2, 2010
SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic systemEfrat Birk, Adi Har-Zahav, Chiara M Manzini, et al.
Nature Cell Biology|July 24, 2007
A reciprocal tensin-3-cten switch mediates EGF-driven mammary cell migrationMenachem Katz, Ido Amit, Ami Citri, et al.
Blood|December 8, 2009
Down syndrome acute lymphoblastic leukemia, a highly heterogeneous disease in which aberrant expression of CRLF2 is associated with mutated JAK2: a report from the International BFM Study GroupLibi Hertzberg, Elena Vendramini, Ithamar Ganmore, et al.
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