GRAMMATICO, Barbara
GRAMMATICO, Barbara
Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene
2019 Pascolini, Giulia; Majore, Silvia; Valiante, Michele; Bottillo, Irene; Laino, Luigi; Agolini, Emanuele; Novelli, Antonio; Grammatico, Barbara; Calvani, Mauro; Grammatico, Paola
Autosomal dominant retinitis pigmentosa associated with Arg-135-Trp point mutation of rhodopsin gene: clinical features and longitudinal observations
1996 Grammatico, Barbara; Iannaccone, Forte; De, Bernardo; Vingolo, Enzo Maria
Disorders of sex development: a genetic study of patients in a multidisciplinary clinic.
2014 Laino, Luigi; Silvia, Majore; N., Preziosi; Grammatico, Barbara; C., De Bernardo; S., Scommegna; A. M., Rapone; G., Marrocco; Bottillo, Irene; Grammatico, Paola
Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report
2013 Bottillo, Irene; Castori, Marco; Carmelilia De, Bernardo; Romano, Fabbri; Grammatico, Barbara; Nicoletta, Preziosi; Giovanna, Scassellati; Evelina, Silvestri; Spagnuolo, Antonella; Laino, Luigi; Grammatico, Paola
Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?
2023 Bottillo, Irene; Savino, Emanuele; Majore, Silvia; Mulargia, Claudia; Valiante, Michele; Ferraris, Alessandro; Rossi, Valentina; Svegliati, Francesca; Ciccone, Maria Pia; Brusco, Francesca; Grammatico, Barbara; Di Giacomo, Gianluca; Bargiacchi, Simone; D'Angelantonio, Daniela; Grammatico, Paola
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene | 2019 | Pascolini, Giulia; Majore, Silvia; Valiante, Michele; Bottillo, Irene; Laino, Luigi; Agolini, Emanuele; Novelli, Antonio; Grammatico, Barbara; Calvani, Mauro; Grammatico, Paola | |
| Autosomal dominant retinitis pigmentosa associated with Arg-135-Trp point mutation of rhodopsin gene: clinical features and longitudinal observations | 1996 | Grammatico, Barbara; Iannaccone, Forte; De, Bernardo; Vingolo, Enzo Maria | |
| Disorders of sex development: a genetic study of patients in a multidisciplinary clinic. | 2014 | Laino, Luigi; Silvia, Majore; N., Preziosi; Grammatico, Barbara; C., De Bernardo; S., Scommegna; A. M., Rapone; G., Marrocco; Bottillo, Irene; Grammatico, Paola | |
| Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report | 2013 | Bottillo, Irene; Castori, Marco; Carmelilia De, Bernardo; Romano, Fabbri; Grammatico, Barbara; Nicoletta, Preziosi; Giovanna, Scassellati; Evelina, Silvestri; Spagnuolo, Antonella; Laino, Luigi; Grammatico, Paola | |
| Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability? | 2023 | Bottillo, Irene; Savino, Emanuele; Majore, Silvia; Mulargia, Claudia; Valiante, Michele; Ferraris, Alessandro; Rossi, Valentina; Svegliati, Francesca; Ciccone, Maria Pia; Brusco, Francesca; Grammatico, Barbara; Di Giacomo, Gianluca; Bargiacchi, Simone; D'Angelantonio, Daniela; Grammatico, Paola |