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Francesca Torricelli

University of Florence

142

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2793

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Survey of Italian Pediatricians on awareness, experiences and beliefs regarding direct-to-consumer genetic testing in minors

2019 Epidemiology, biostatistics, and public health
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CFH Y402H polymorphism in Italian patients with age-related macular degeneration, retinitis pigmentosa, and Stargardt disease

2018 Ophthalmic Genetics
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Validation of a method for noninvasive prenatal testing for fetal aneuploidies risk and considerations for its introduction in the Public Health System.

2017 Journal of Maternal-fetal & Neonatal Medicine
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Customized first-line chemotherapy according to ERCC1 and RRM1 SNPs in advanced NSCLC patients: A phase II study.

2017 Journal of Clinical Oncology
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Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations

2017 Scientific Reports
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Impact of Genotype on the Occurrence of Atrial Fibrillation in Patients With Hypertrophic Cardiomyopathy.

2016 American Journal of Cardiology
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166 TARGETED SEQUENCING ANALYSIS OF COMMONLY MUTATED GENES IN CHRONIC MYELOMONOCYTIC LEUKEMIA USING NGS: IMPACT AND CLINICAL IMPLICATIONS

2015 Leukemia Research
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A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene

2015 PLOS ONE
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Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes

2015 Blood Cells Molecules and Diseases
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Knowledge and attitude of general pratictioners towards direct-to-consumer genomic tests: a survey conducted in Italy

2015 Epidemiology, biostatistics, and public health
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