MINOTTI, CHIARA
MINOTTI, CHIARA
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
Donor selection for allogeneic hematopoietic cell transplant in a patient with JAK2 V617F primary myelofibrosis and SH2B3/LNK germline variant
2024-12-01 Ranucci, G; Page, C; Marchionni, E; Minotti, C; Silvestrini, G; Gastaldi, S; Pacitto, G; Cicconi, L; Biagi, A; Ferradini, V; Attardi, E; Novelli, G; Sangiuolo, F; Voso, Mt; Gurnari, C
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
| 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 | |
| 1-dic-2024 | Donor selection for allogeneic hematopoietic cell transplant in a patient with JAK2 V617F primary myelofibrosis and SH2B3/LNK germline variant | Ranucci, G; Page, C; Marchionni, E; Minotti, C; Silvestrini, G; Gastaldi, S; Pacitto, G; Cicconi, L; Biagi, A; Ferradini, V; Attardi, E; Novelli, G; Sangiuolo, F; Voso, Mt; Gurnari, C | 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 |