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Cystic Fibrosis-Screening Positive Inconclusive Diagnosis: Newborn Screening and Long-Term Follow-Up Permits to Early Identify Patients with CFTR-Related Disorders.
Diagnostics (Basel). 2020 Aug 8;10(8):570. doi: 10.3390/diagnostics10080570.
Diagnostics (Basel). 2020.
PMID: 32784480
Free PMC article.
One-step NGS molecular analysis of the CFTR gene on newborn dried blood spots gives a higher diagnostic sensitivity in affected and carrier subjects: A pilot study.
Nunziato M, Starnone F, Giordano S, D'Antonio M, Scognamiglio D, Esposito MV, Correra A, Di Maggio F, D'Argenio V, Scaglione GL, Castaldo G, Salvatore F.
Nunziato M, et al. Among authors: d antonio m.
Clin Chim Acta. 2024 Jan 1;552:117625. doi: 10.1016/j.cca.2023.117625. Epub 2023 Nov 3.
Clin Chim Acta. 2024.
PMID: 37923102
Free article.
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Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants.
Esposito G, Testa F, Zacchia M, Crispo AA, Di Iorio V, Capolongo G, Rinaldi L, D'Antonio M, Fioretti T, Iadicicco P, Rossi S, Franzè A, Marciano E, Capasso G, Simonelli F, Salvatore F.
Esposito G, et al. Among authors: d antonio m.
BMC Med Genet. 2017 Feb 1;18(1):10. doi: 10.1186/s12881-017-0372-0.
BMC Med Genet. 2017.
PMID: 28143435
Free PMC article.
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