GAUDIOSO, FEDERICA
GAUDIOSO, FEDERICA
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Clinical and molecular aspects of the neurodevelopmental disorder associated with PAK3 perturbation
2021 Pascolini, G.; Gaudioso, F.; Passarelli, C.; Novelli, A.; Di Giosaffatte, N.; Majore, S.; Grammatico, P.
Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers-Danlos Syndrome Classical-like Type 2?
2022 Di Giosaffatte, Niccolò; Ferraris, Alessandro; Gaudioso, Federica; Lodato, Valentina; Savino, Emanuele; Celletti, Claudia; Camerota, Filippo; Bargiacchi, Simone; Laino, Luigi; Majore, Silvia; Bottillo, Irene; Grammatico, Paola
Koolen de Vries Sundrome in the first adulthood patient of Southern India Ancestry
2020 Pascolini, G; Gaudioso, F; Fadda, Mt; Laino, L; Ferraris, A; , ; Grammatico, P.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Clinical and molecular aspects of the neurodevelopmental disorder associated with PAK3 perturbation | 2021 | Pascolini, G.; Gaudioso, F.; Passarelli, C.; Novelli, A.; Di Giosaffatte, N.; Majore, S.; Grammatico, P. | |
| Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers-Danlos Syndrome Classical-like Type 2? | 2022 | Di Giosaffatte, Niccolò; Ferraris, Alessandro; Gaudioso, Federica; Lodato, Valentina; Savino, Emanuele; Celletti, Claudia; Camerota, Filippo; Bargiacchi, Simone; Laino, Luigi; Majore, Silvia; Bottillo, Irene; Grammatico, Paola | |
| Koolen de Vries Sundrome in the first adulthood patient of Southern India Ancestry | 2020 | Pascolini, G; Gaudioso, F; Fadda, Mt; Laino, L; Ferraris, A; , ; Grammatico, P. |