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Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
Leone MP, Morlino S, Nardella G, Pracella R, Giachino D, Celli L, Baldo D, Turolla L, Piccione M, Salzano E, Busè M, Lastella P, Zollino M, Cantone R, Grosso E, Zonta A, Pasini B, Piscopo C, De Maggio I, Priolo M, Mammi C, Foiadelli T, Trabatti C, Savasta S, Iolascon A, Ferraris A, Lodato V, Di Giosaffatte N, Majore S, Selicorni A, Petracca A, Fusco C, Celli M, Guarnieri V, Micale L, Castori M. Leone MP, et al. Among authors: celli l. Hum Genet. 2023 Jun;142(6):785-808. doi: 10.1007/s00439-023-02547-z. Epub 2023 Apr 20. Hum Genet. 2023. PMID: 37079061
[Chevallier-Moutier ecchymotic diathesis].
CELLI L, MAGGI GC. CELLI L, et al. Haematologica. 1955;40:343-62. Haematologica. 1955. PMID: 13384872 Italian. No abstract available.
Serum creatine kinase isoenzymes in children with osteogenesis imperfecta.
D'Eufemia P, Finocchiaro R, Zambrano A, Lodato V, Celli L, Finocchiaro S, Persiani P, Turchetti A, Celli M. D'Eufemia P, et al. Among authors: celli m, celli l. Osteoporos Int. 2017 Jan;28(1):339-346. doi: 10.1007/s00198-016-3729-x. Epub 2016 Aug 25. Osteoporos Int. 2017. PMID: 27562566 Clinical Trial.
Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports.
Storoni S, Celli L, Zhytnik L, Maasalu K, Märtson A, Kõks S, Khmyzov S, Pashenko A, Maugeri A, Zambrano A, Celli M, Eekhoff EMW, Micha D. Storoni S, et al. Among authors: celli l. Eur J Med Genet. 2023 Nov;66(11):104857. doi: 10.1016/j.ejmg.2023.104857. Epub 2023 Sep 26. Eur J Med Genet. 2023. PMID: 37758164 Free article.
92 results