GRAZIANI, LUDOVICO
GRAZIANI, LUDOVICO
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A Novel COL4A5 Pathogenic Variant Joins the Dots in a Family with a Synchronous Diagnosis of Alport Syndrome and Polycystic Kidney Disease
2024-05-08 Graziani, L; Minotti, C; Carriero, Ml; Bengala, M; Lai, S; Terracciano, A; Novelli, A; Novelli, G
Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review
2024-02-06 Minotti, C; Graziani, L; Sallicandro, E; Digilio, Mc; Falasca, R; Alesi, V; Novelli, G; Dentici, Ml; Loddo, S; Novelli, A
Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Genes Determined by Parental Segregation and De Novo Origin: A Case Report
2023-01-01 Graziani, L; Zampatti, S; Carriero, Ml; Minotti, C; Peconi, C; Bengala, M; Giardina, E; Novelli, G
Genetic Variability of SOX10 -Related Disorders within an Italian Family: Straddling the Line between Kallmann and Waardenburg Syndrome
2024-03-22 Graziani, L; Carriero, Ml; Pozzi, F; Minotti, C; Andreadi, A; Bellia, A; Ruta, R; Bengala, M; Novelli, A; Lauro, D; Novelli, G
Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations
2024-04-28 Graziani, L; Nuovo, S; Pisaneschi, E; Carriero, Ml; Baghernajad Salehi, L; Nardone, Am; Manganaro, L; Novelli, A; D'Apice, Mr; Mappa, I; Novelli, G
| Data di pubblicazione | Titolo | Autore(i) | Tipo | File |
|---|---|---|---|---|
| 8-mag-2024 | A Novel COL4A5 Pathogenic Variant Joins the Dots in a Family with a Synchronous Diagnosis of Alport Syndrome and Polycystic Kidney Disease | Graziani, L; Minotti, C; Carriero, Ml; Bengala, M; Lai, S; Terracciano, A; Novelli, A; Novelli, G | Articolo su rivista | |
| 6-feb-2024 | Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review | Minotti, C; Graziani, L; Sallicandro, E; Digilio, Mc; Falasca, R; Alesi, V; Novelli, G; Dentici, Ml; Loddo, S; Novelli, A | Articolo su rivista | |
| 1-gen-2023 | Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Genes Determined by Parental Segregation and De Novo Origin: A Case Report | Graziani, L; Zampatti, S; Carriero, Ml; Minotti, C; Peconi, C; Bengala, M; Giardina, E; Novelli, G | Articolo su rivista | |
| 22-mar-2024 | Genetic Variability of SOX10 -Related Disorders within an Italian Family: Straddling the Line between Kallmann and Waardenburg Syndrome | Graziani, L; Carriero, Ml; Pozzi, F; Minotti, C; Andreadi, A; Bellia, A; Ruta, R; Bengala, M; Novelli, A; Lauro, D; Novelli, G | Articolo su rivista | |
| 28-apr-2024 | Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations | Graziani, L; Nuovo, S; Pisaneschi, E; Carriero, Ml; Baghernajad Salehi, L; Nardone, Am; Manganaro, L; Novelli, A; D'Apice, Mr; Mappa, I; Novelli, G | Articolo su rivista |