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Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire. Hum Genet 2015;134(6):613-26.
. Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing. Birth Defects Res A Clin Mol Teratol 2015;103(12):1003-1010.
. Coeliac disease in the ERA of the new ESPGHAN and BSPGHAN guidelines: a prospective cohort study. Arch Dis Child 2015;
. Combined circulating epigenetic markers to improve mesothelin performance in the diagnosis of malignant mesothelioma. Lung Cancer 2015;
. Comment on: 'Anthropometric parameters in relation to glycaemic status and lipid profile in a multi-ethnic sample in Italy' by Gualdi-Russo et al. Public Health Nutr 2015;:1.
. Complete remission of VZV reactivation treated with valganciclovir in a patient with total lymphocyte depletion and acute kidney injury after allogeneic bone marrow transplantation. APMIS 2015;123(1):77-80.
. Complete remission of VZV reactivation treated with valganciclovir in a patient with total lymphocyte depletion and acute kidney injury after allogeneic bone marrow transplantation. APMIS 2015;123(1):77-80.
. Comprehensive analysis of polymorphisms in the HLA-G 5' upstream regulatory and 3' untranslated regions in Brazilian patients with systemic lupus erythematosus. Tissue Antigens 2015;85(6):458-65.
. Connexin 26 variant carriers have a better gastrointestinal health: is this the heterozygote advantage?. Eur J Hum Genet 2015;23(5):563-4.
. Design, Synthesis, and Biological Characterization of Novel Mitochondria Targeted Dichloroacetate-Loaded Compounds with Antileukemic Activity. J Med Chem 2015;
. The diagnostic challenge of very early-onset enterocolitis in an infant with XIAP deficiency. BMC Pediatr 2015;15(1):208.
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