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Page 1
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Am J Hum Genet. 2023 May 4;110(5):790-808. doi: 10.1016/j.ajhg.2023.03.016. Epub 2023 Apr 17.
Am J Hum Genet. 2023.
PMID: 37071997
Free PMC article.
Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of CDKN1C.
Sparago A, Cerrato F, Pignata L, Cammarata-Scalisi F, Garavelli L, Piscopo C, Vancini A, Riccio A.
Sparago A, et al. Among authors: vancini a.
Genes (Basel). 2021 May 9;12(5):706. doi: 10.3390/genes12050706.
Genes (Basel). 2021.
PMID: 34065128
Free PMC article.
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A regional audit system for stillbirth: a way to better understand the phenomenon.
Po' G, Monari F, Zanni F, Grandi G, Lupi C, Facchinetti F; Stillbirth Emilia-Romagna Audit Group.
Po' G, et al.
BMC Pregnancy Childbirth. 2019 Aug 5;19(1):276. doi: 10.1186/s12884-019-2432-2.
BMC Pregnancy Childbirth. 2019.
PMID: 31382995
Free PMC article.
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Mediterranean Diet Affects Blood Circulating Lipid-Soluble Micronutrients and Inflammatory Biomarkers in a Cohort of Breast Cancer Survivors: Results from the SETA Study.
Negrati M, Razza C, Biasini C, Di Nunzio C, Vancini A, Dall'Asta M, Lovotti G, Trevisi E, Rossi F, Cavanna L.
Negrati M, et al. Among authors: vancini a.
Nutrients. 2021 Sep 30;13(10):3482. doi: 10.3390/nu13103482.
Nutrients. 2021.
PMID: 34684483
Free PMC article.
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Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
Micale L, Augello B, Fusco C, Selicorni A, Loviglio MN, Silengo MC, Reymond A, Gumiero B, Zucchetti F, D'Addetta EV, Belligni E, Calcagnì A, Digilio MC, Dallapiccola B, Faravelli F, Forzano F, Accadia M, Bonfante A, Clementi M, Daolio C, Douzgou S, Ferrari P, Fischetto R, Garavelli L, Lapi E, Mattina T, Melis D, Patricelli MG, Priolo M, Prontera P, Renieri A, Mencarelli MA, Scarano G, della Monica M, Toschi B, Turolla L, Vancini A, Zatterale A, Gabrielli O, Zelante L, Merla G.
Micale L, et al. Among authors: vancini a.
Orphanet J Rare Dis. 2011 Jun 9;6:38. doi: 10.1186/1750-1172-6-38.
Orphanet J Rare Dis. 2011.
PMID: 21658225
Free PMC article.
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Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
Micale L, Augello B, Maffeo C, Selicorni A, Zucchetti F, Fusco C, De Nittis P, Pellico MT, Mandriani B, Fischetto R, Boccone L, Silengo M, Biamino E, Perria C, Sotgiu S, Serra G, Lapi E, Neri M, Ferlini A, Cavaliere ML, Chiurazzi P, Monica MD, Scarano G, Faravelli F, Ferrari P, Mazzanti L, Pilotta A, Patricelli MG, Bedeschi MF, Benedicenti F, Prontera P, Toschi B, Salviati L, Melis D, Di Battista E, Vancini A, Garavelli L, Zelante L, Merla G.
Micale L, et al. Among authors: vancini a.
Hum Mutat. 2014 Jul;35(7):841-50. doi: 10.1002/humu.22547. Epub 2014 Apr 9.
Hum Mutat. 2014.
PMID: 24633898
Free PMC article.
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Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.
Lepri FR, Cocciadiferro D, Augello B, Alfieri P, Pes V, Vancini A, Caciolo C, Squeo GM, Malerba N, Adipietro I, Novelli A, Sotgiu S, Gherardi R, Digilio MC, Dallapiccola B, Merla G.
Lepri FR, et al. Among authors: vancini a.
Int J Mol Sci. 2017 Dec 28;19(1):82. doi: 10.3390/ijms19010082.
Int J Mol Sci. 2017.
PMID: 29283410
Free PMC article.
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