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American Journal of Medical Genetics. Part A|July 17, 2010
TBX2 gene duplication associated with complex heart defect and skeletal malformationsFrancesca Clementina Radio, Laura Bernardini, Sara Loddo, et al.Ophthalmic Genetics|February 6, 2016
Hyperferritinemia-cataract syndrome: Long-term ophthalmic observations in an Italian familyIlaria Cosentino, Fabrizio Zeri, Peter G Swann, et al.Blood Cells, Molecules & Diseases|September 24, 2013
TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern ItalyFrancesca Clementina Radio, Silvia Majore, Francesco Binni, et al.Journal of Personalized Medicine|June 28, 2023
Organizational Aspects of the Implementation and Use of Whole Genome Sequencing and Whole Exome Sequencing in the Pediatric Population in Italy: Results of a SurveyMario Cesare Nurchis, Gian Marco Raspolini, Aurora Heidar Alizadeh, et al.American Journal of Medical Genetics. Part A|December 22, 2015
Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo-Cardio-Facial) syndromeFrancesca Clementina Radio, Maria Cristina Digilio, Rossella Capolino, et al.Genes|May 28, 2022
Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic VariantsManuela Priolo, Cecilia Mancini, Simone Pizzi, et al.Haematologica|September 8, 2009
Association of hepcidin promoter c.-582 A>G variant and iron overload in thalassemia majorMarco Andreani, Francesca Clementina Radio, Manuela Testi, et al.Health Policy (Amsterdam, Netherlands)|March 23, 2022
Incremental net benefit of whole genome sequencing for newborns and children with suspected genetic disorders: Systematic review and meta-analysis of cost-effectiveness evidenceMario Cesare Nurchis, Maria Teresa Riccardi, Francesca Clementina Radio, et al.The European Journal of Health Economics : HEPAC : Health Economics in Prevention and Care|November 17, 2023
Bayesian cost-effectiveness analysis of Whole genome sequencing versus Whole exome sequencing in a pediatric population with suspected genetic disordersMario Cesare Nurchis, Francesca Clementina Radio, Luca Salmasi, et al.Genes|July 2, 2021
Co-Occurring Heterozygous <i>CNOT3</i> and <i>SMAD6</i> Truncating Variants: Unusual Presentation and Refinement of the IDDSADF PhenotypeManuela Priolo, Francesca Clementina Radio, Simone Pizzi, et al.Pageof 9