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Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome's clinical and molecular spectrum through NALCN in-silico structural analysis.
Vecchio D, Macchiaiolo M, Gonfiantini MV, Panfili FM, Petrizzelli F, Liorni N, Cortellessa F, Sinibaldi L, Rana I, Agolini E, Cocciadiferro D, Colantoni N, Semeraro M, Rizzo C, Deodati A, Cotugno N, Caggiano S, Verrillo E, Nucci CG, Alkan S, Saraiva JM, De Sá J, Almeida PM, Krishna J, Buonuomo PS, Martinelli D, Dionisi Vici C, Caputo V, Bartuli A, Novelli A, Mazza T. Vecchio D, et al. Among authors: de sa j. Front Genet. 2024 Dec 11;15:1477940. doi: 10.3389/fgene.2024.1477940. eCollection 2024. Front Genet. 2024. PMID: 39722796 Free PMC article.
Evaluation of the Steno Type 1 Risk Engine in predicting cardiovascular events in an ethnic mixed population of type 1 diabetes mellitus and its association with chronic microangiopathy complications.
Paliares IC, Dualib PM, Torres LSN, Aroucha PMT, de Almeida-Pititto B, de Sa JR, Dib SA. Paliares IC, et al. Among authors: de sa jr. Cardiovasc Diabetol. 2024 Oct 22;23(1):374. doi: 10.1186/s12933-024-02460-3. Cardiovasc Diabetol. 2024. PMID: 39438880 Free PMC article.
198 results