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Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.
- Published in:
- Genes, 2018, v. 9, n. 4, p. 216, doi. 10.3390/genes9040216
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- Publication type:
- Article
The Role of Oxidative Stress in the Pathomechanism of Congenital Malformations.
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- Oxidative Medicine & Cellular Longevity, 2018, v. 2018, p. 1, doi. 10.1155/2018/7404082
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- Publication type:
- Article
Survey of KRAS, BRAF and PIK3CA mutational status in 209 consecutive Italian colorectal cancer patients.
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- International Journal of Biological Markers, 2012, v. 27, n. 4, p. e366, doi. 10.5301/JBM.2012.9765
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- Publication type:
- Article
Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes.
- Published in:
- 2014
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- Publication type:
- journal article
FROM CLINICAL SUSPECT TO MOLECULAR CONFIRMATION OF NOONAN SYNDROME; CONTRIBUTION OF "BEST PRACTICE" GENETIC COUNSELING AND NEW TECHNICAL POSSIBILITIES.
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- Genetika (0534-0012), 2015, v. 47, n. 3, p. 877, doi. 10.2298/GENSR1503877B
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- Publication type:
- Article
Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes.
- Published in:
- BMC Cancer, 2014, v. 14, p. 1, doi. 10.1186/1471-2407-14-661
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- Publication type:
- Article
Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.
- Published in:
- PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0123092
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- Publication type:
- Article