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Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients.
Diagnostics (Basel). 2020 Nov 24;10(12):995. doi: 10.3390/diagnostics10120995.
Diagnostics (Basel). 2020.
PMID: 33255364
Free PMC article.
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.
Fioretti T, Martora F, De Maggio I, Ambrosio A, Piscopo C, Vallone S, Amato F, Passaro D, Acquaviva F, Gaudiello F, Di Girolamo D, Maiolo V, Zarrilli F, Esposito S, Vitiello G, Auricchio L, Sammarco E, Brasi D, Petillo R, Gambale A, Cattaneo F, Ammendola R, Nappa P, Esposito G.
Fioretti T, et al. Among authors: ambrosio a.
Biomedicines. 2024 May 17;12(5):1112. doi: 10.3390/biomedicines12051112.
Biomedicines. 2024.
PMID: 38791074
Free PMC article.
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De Novo Large Deletions in the PHEX Gene Caused X-Linked Hypophosphataemic Rickets in Two Italian Female Infants Successfully Treated with Burosumab.
Pecoraro C, Fioretti T, Perruno A, Klain A, Cioffi D, Ambrosio A, Passaro D, Annicchiarico Petruzzelli L, Di Domenico C, de Girolamo D, Vallone S, Cattaneo F, Ammendola R, Esposito G.
Pecoraro C, et al. Among authors: ambrosio a.
Diagnostics (Basel). 2023 Jul 31;13(15):2552. doi: 10.3390/diagnostics13152552.
Diagnostics (Basel). 2023.
PMID: 37568915
Free PMC article.
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