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Genetic counseling during COVID-19 pandemic: Tuscany experience.
Mol Genet Genomic Med. 2020 Oct;8(10):e1433. doi: 10.1002/mgg3.1433. Epub 2020 Aug 3.
Mol Genet Genomic Med. 2020.
PMID: 32743952
Free PMC article.
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: forzano g.
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.
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Immunological Features of Neuroblastoma Amplified Sequence Deficiency: Report of the First Case Identified Through Newborn Screening for Primary Immunodeficiency and Review of the Literature.
Ricci S, Lodi L, Serranti D, Moroni M, Belli G, Mancano G, La Barbera A, Forzano G, Mangone G, Indolfi G, Azzari C.
Ricci S, et al. Among authors: forzano g.
Front Immunol. 2019 Aug 27;10:1955. doi: 10.3389/fimmu.2019.01955. eCollection 2019.
Front Immunol. 2019.
PMID: 31507590
Free PMC article.
Review.
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Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement.
Micale L, Morlino S, Carbone A, Carissimo A, Nardella G, Fusco C, Palumbo O, Schirizzi A, Russo F, Mazzoccoli G, Breckpot J, De Luca C, Ferraris A, Giunta C, Grammatico P, Haanpää MK, Mancano G, Forzano G, Cacchiarelli D, Van Esch H, Callewaert B, Rohrbach M, Castori M.
Micale L, et al. Among authors: forzano g.
Genet Med. 2022 Feb;24(2):439-453. doi: 10.1016/j.gim.2021.10.009. Epub 2021 Nov 30.
Genet Med. 2022.
PMID: 34906501
Free article.
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