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assuras s
(25 results)?
Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia.
Front Endocrinol (Lausanne). 2023 Aug 1;14:1205977. doi: 10.3389/fendo.2023.1205977. eCollection 2023.
Front Endocrinol (Lausanne). 2023.
PMID: 37600704
Free PMC article.
Definition and management of colorectal polyposis not associated with APC/MUTYH germline pathogenic variants: AIFEG consensus statement.
Urso EDL, Ponz de Leon M, Vitellaro M, Piozzi GN, Bao QR, Martayan A, Remo A, Stigliano V, Oliani C, Lucci Cordisco E, Pucciarelli S, Ranzani GN, Viel A; AIFEG group.
Urso EDL, et al.
Dig Liver Dis. 2021 Apr;53(4):409-417. doi: 10.1016/j.dld.2020.11.018. Epub 2021 Jan 25.
Dig Liver Dis. 2021.
PMID: 33504457
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Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle.
Fusco C, Nardella G, Morlino S, Micale L, Tragni V, Agolini E, Novelli A, Massuras S, Giambra V, Pierri CL, Castori M.
Fusco C, et al. Among authors: massuras s.
J Hum Genet. 2024 Jan;69(1):53-58. doi: 10.1038/s10038-023-01193-7. Epub 2023 Sep 12.
J Hum Genet. 2024.
PMID: 37697026
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