FRANZESE, Giuseppina
FRANZESE, Giuseppina
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Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype
2022 Napolitano, F; Dell'Aquila, M; Terracciano, C; Franzese, G; Gentile, Mt; Piluso, G; Santoro, C; Colavito, D; Patane, A; De Blasiis, P; Sampaolo, S; Paladino, S; Melone, Mab
Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families
2021 Napolitano, Filomena; Bruno, Giorgia; Terracciano, Chiara; Franzese, Giuseppina; Piera Palomba, Nicole; Scotto di Carlo, Federica; Signoriello, Elisabetta; DE BLASIIS, Paolo; Navarro, Stefano; Gialluisi, Alessandro; Melone, Mariarosa Anna Beatrice; Sampaolo, Simone; Esposito, Teresa
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype | 1-gen-2022 | Napolitano, F; Dell'Aquila, M; Terracciano, C; Franzese, G; Gentile, Mt; Piluso, G; Santoro, C; Colavito, D; Patane, A; De Blasiis, P; Sampaolo, S; Paladino, S; Melone, Mab | |
| Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families | 1-gen-2021 | Napolitano, Filomena; Bruno, Giorgia; Terracciano, Chiara; Franzese, Giuseppina; Piera Palomba, Nicole; Scotto di Carlo, Federica; Signoriello, Elisabetta; DE BLASIIS, Paolo; Navarro, Stefano; Gialluisi, Alessandro; Melone, Mariarosa Anna Beatrice; Sampaolo, Simone; Esposito, Teresa |