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Advances in Pediatrics|December 4, 2008
The FG syndromes (Online Mendelian Inheritance in Man 305450): perspective in 2008John M Opitz, James F Smith, Lucia Santoro
American Journal of Medical Genetics. Part A|April 14, 2009
Mental retardation, facial anomalies, brachydactyly, cerebral angiomas, femoral nucleus necrosis: a new entity or Hall-Riggs syndrome?Anna Ficcadenti, Lucia Santoro, Valeria Petroni, et al.
Molecular Genetics and Metabolism|March 31, 2024
Diagnosis of alpha-Mannosidosis: Practical approaches to reducing diagnostic delays in this ultra-rare diseaseLucia Santoro, Graziella Cefalo, Fabrizio Canalini, et al.
Patient Preference and Adherence|June 23, 2012
Self-reported adherence supports patient preference for the single tablet regimen (STR) in the current cART eraGaetana Sterrantino, Lucia Santoro, Dario Bartolozzi, et al.
Journal of Computer Assisted Tomography|November 8, 2005
Hemolymphangiomatosis of the spleen: imaging featuresLucia Santoro, Valeria Santini, Simonetta Di Lollo, et al.
Journal of Magnetic Resonance Imaging : JMRI|October 27, 2009
Resovist enhanced MR imaging of the liver: does quantitative assessment help in focal lesion classification and characterization?Lucia Santoro, Luigi Grazioli, Antonella Filippone, et al.
Biofactors (Oxford, England)|July 29, 2006
Assessment of DNA damage in Down Syndrome patients by means of a new, optimised single cell gel electrophoresis techniqueLuca Tiano, Gian Paolo Littarru, Federica Principi, et al.
Italian Journal of Pediatrics|March 5, 2022
A new phenotype of aldolase a deficiency in a 14 year-old boy with epilepsy and rhabdomyolysis - case reportLucia Santoro, Dorina Pjetraj, Virtut Velmishi, et al.
American Journal of Medical Genetics. Part A|November 5, 2022
18-year follow-up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis IDorina Pjetraj, Lucia Santoro, Claudia Sgattoni, et al.
BMC Medical Genetics|March 12, 2016
12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatmentOrazio Gabrielli, Lorne A Clarke, Anna Ficcadenti, et al.
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