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Alazami syndrome: the first case of papillary thyroid carcinoma.
Ivanovski I, Caraffi SG, Magnani E, Rosato S, Pollazzon M, Matalonga L, Piana S, Nicoli D, Baldo C, Bernasconi S, Frasoldati A, Zuffardi O, Garavelli L. Ivanovski I, et al. Among authors: nicoli d. J Hum Genet. 2020 Jan;65(2):133-141. doi: 10.1038/s10038-019-0682-5. Epub 2019 Oct 28. J Hum Genet. 2020. PMID: 31656314
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.
Giangiobbe S, Caraffi SG, Ivanovski I, Maini I, Pollazzon M, Rosato S, Trimarchi G, Lauriello A, Marinelli M, Nicoli D, Baldo C, Laurie S, Flores-Daboub J, Provenzano A, Andreucci E, Peluso F, Rizzo R, Stewart H, Lachlan K, Bayat A, Napoli M, Carboni G, Baker J, Mendel A, Piatelli G, Pantaleoni C, Mattina T, Prontera P, Mendelsohn NJ, Giglio S, Zuffardi O, Garavelli L. Giangiobbe S, et al. Among authors: nicoli d. Am J Med Genet A. 2020 Dec;182(12):2877-2886. doi: 10.1002/ajmg.a.61859. Epub 2020 Oct 11. Am J Med Genet A. 2020. PMID: 33043602
Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature.
Trimarchi G, Caraffi SG, Radio FC, Barresi S, Contrò G, Pizzi S, Maini I, Pollazzon M, Fusco C, Sassi S, Nicoli D, Napoli M, Pascarella R, Gargano G, Zuffardi O, Tartaglia M, Garavelli L. Trimarchi G, et al. Among authors: nicoli d. Genes (Basel). 2021 Jun 22;12(7):950. doi: 10.3390/genes12070950. Genes (Basel). 2021. PMID: 34206215 Free PMC article.
VEXAS Syndrome: A Case Series From a Single-Center Cohort of Italian Patients With Vasculitis.
Muratore F, Marvisi C, Castrignanò P, Nicoli D, Farnetti E, Bonanno O, Longo R, Zaldini P, Galli E, Balanda N, Beck DB, Grayson PC, Pipitone N, Boiardi L, Salvarani C. Muratore F, et al. Among authors: nicoli d. Arthritis Rheumatol. 2022 Apr;74(4):665-670. doi: 10.1002/art.41992. Epub 2022 Mar 3. Arthritis Rheumatol. 2022. PMID: 34611997 Free PMC article.
Mother-newborn ABO group discrepancy caused by a rare BW.17 variant.
Marraccini C, Iotti B, Vanzanelli P, Bedeschi E, Farnetti E, Nicoli D, Berni P, Razzoli A, Maurizi E, Gavioli G, Mazzi A, Baricchi R, Merolle L, Schiroli D. Marraccini C, et al. Among authors: nicoli d. Transfus Apher Sci. 2023 Jun;62(3):103621. doi: 10.1016/j.transci.2022.103621. Epub 2022 Dec 10. Transfus Apher Sci. 2023. PMID: 36535828
92 results