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Page 1
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.
Provenzano A, La Barbera A, Scagnet M, Pagliazzi A, Traficante G, Pantaleo M, Tiberi L, Vergani D, Kurtas NE, Guarducci S, Bargiacchi S, Forzano G, Artuso R, Palazzo V, Kura A, Giordano F, di Feo D, Mortilla M, De Filippi C, Mattei G, Garavelli L, Giusti B, Genitori L, Zuffardi O, Giglio S. Provenzano A, et al. Among authors: guarducci s. Hum Genet. 2021 Apr;140(4):625-647. doi: 10.1007/s00439-020-02231-6. Epub 2020 Dec 18. Hum Genet. 2021. PMID: 33337535 Free PMC article.
Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission.
Tolomeo D, Rubegni A, Nesti C, Barghigiani M, Battini R, D'Amore F, Doccini S, Donati MA, Galatolo D, Giglio S, Guarducci S, Pantaleo M, Pasquariello R, Procopio E, Pochiero F, Tessa A, Santorelli FMM. Tolomeo D, et al. Among authors: guarducci s. J Med Genet. 2021 Aug;58(8):543-546. doi: 10.1136/jmedgenet-2020-107644. Epub 2021 Jun 16. J Med Genet. 2021. PMID: 34135091 No abstract available.
Diagnosis and prevention of fragile-X syndrome. From the family study to the population screening programme: eighteen years of activity.
Giovannucci Uzielli ML, Guarducci S, Cecconi A, Lenzi S, Ricci U, Balestrieri C, Petrocelli P, Lapi E. Giovannucci Uzielli ML, et al. Among authors: guarducci s. Acta Genet Med Gemellol (Roma). 1996;45(1-2):303-8. doi: 10.1017/s0001566000001537. Acta Genet Med Gemellol (Roma). 1996. PMID: 8872054 No abstract available.
Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation.
Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, Cecconi A, Ombroni L, Andreucci E, Sani I, Brusaferri A, Lasagni A, Ricotti G, Giometto B, Nicolao P, Gasparini P, Granatiero M, Uzielli ML. Giunti L, et al. Among authors: guarducci s. Brain Dev. 2001 Dec;23 Suppl 1:S242-5. doi: 10.1016/s0387-7604(01)00342-4. Brain Dev. 2001. PMID: 11738883
Infrared fluorescent automated detection of thirteen short tandem repeat polymorphisms and one gender-determining system of the CODIS core system.
Ricci U, Sani I, Guarducci S, Biondi C, Pelagatti S, Lazzerini V, Brusaferri A, Lapini M, Andreucci E, Giunti L, Giovannucci Uzielli ML. Ricci U, et al. Among authors: guarducci s. Electrophoresis. 2000 Nov;21(17):3564-70. doi: 10.1002/1522-2683(200011)21:17<3564::AID-ELPS3564>3.0.CO;2-O. Electrophoresis. 2000. PMID: 11271472
20 results