Sfoglia per Rivista GENES
7q35 microdeletion and 15q13.3 and xp22.33 microduplications in a patient with severe myoclonic epilepsy, microcephaly, dysmorphisms, severe psychomotor delay and intellectual disability
2020-01-01 Paduano, F.; Colao, E.; Loddo, S.; Orlando, V.; Trapasso, F.; Novelli, A.; Perrotti, N.; Iuliano, R.
A familial form of epidermolysis bullosa simplex associated with a pathogenic variant in krt5
2021-01-01 Paduano, F.; Colao, E.; Grillone, T.; Vismara, M. F. M.; Amato, R.; Nistico, S.; Mignogna, C.; Dastoli, S.; Fabiani, F.; Zucco, R.; Trapasso, F.; Perrotti, N.; Iuliano, R.
Germline Testing in a Cohort of Patients at High Risk of Hereditary Cancer Predisposition Syndromes: First Two-Year Results from South Italy
2022-01-01 Paduano, Francesco; Colao, Emma; Fabiani, Fernanda; Rocca, Valentina; Dinatolo, Francesca; Dattola, Adele; D'Antona, Lucia; Amato, Rosario; Trapasso, Francesco; Baudi, Francesco; Perrotti, Nicola; Iuliano, Rodolfo
A novel splicing variant of col2a1 in a fetus with achondrogenesis type ii: Interpretation of pathogenicity of in-frame deletions
2021-01-01 Bruni, V.; Spoleti, C. B.; La Barbera, A.; Dattilo, V.; Colao, E.; Votino, C.; Bellacchio, E.; Perrotti, N.; Giglio, S.; Iuliano, R.
Phenotypic Variability in Phelan-McDermid Syndrome and Its Putative Link to Environmental Factors
2022-01-01 Luigi, Boccuto; Andrew, Mitz; MONTEBIANCO ABENAVOLI, Ludovico; Sara, M Sarasua; William, Bennett; Curtis, Rogers; Barbara, Dupont; Katy, Phelan
A Python Clustering Analysis Protocol of Genes Expression Data Sets
2022-01-01 Agapito, Giuseppe; Milano, Marianna; Cannataro, Mario
Spotlight on a Short-Time Treatment with the IL-4/IL-13 Receptor Blocker in Patients with CRSwNP: microRNAs Modulations and Preliminary Clinical Evidence
2022-01-01 Mimmi, Selena; Lombardo, Nicola; Maisano, Domenico; Piazzetta, Giovanna; Pelaia, Corrado; Pelaia, Girolamo; Greco, Marta; Foti, Daniela; Dattilo, Vincenzo; Iaccino, Enrico
The Variant p.Ala84Pro Is Causative of X-Linked Hypophosphatemic Rickets: Possible Relationship with Burosumab Swinging Response in Adults
2022-01-01 Zagari, Maria Carmela; Chiarello, Paola; Iuliano, Stefano; D'Antona, Lucia; Rocca, Valentina; Colao, Emma; Perrotti, Nicola; Greco, Francesca; Iuliano, Rodolfo; Aversa, Antonio
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 7q35 microdeletion and 15q13.3 and xp22.33 microduplications in a patient with severe myoclonic epilepsy, microcephaly, dysmorphisms, severe psychomotor delay and intellectual disability | 1-gen-2020 | Paduano, F.; Colao, E.; Loddo, S.; Orlando, V.; Trapasso, F.; Novelli, A.; Perrotti, N.; Iuliano, R. | |
| A familial form of epidermolysis bullosa simplex associated with a pathogenic variant in krt5 | 1-gen-2021 | Paduano, F.; Colao, E.; Grillone, T.; Vismara, M. F. M.; Amato, R.; Nistico, S.; Mignogna, C.; Dastoli, S.; Fabiani, F.; Zucco, R.; Trapasso, F.; Perrotti, N.; Iuliano, R. | |
| Germline Testing in a Cohort of Patients at High Risk of Hereditary Cancer Predisposition Syndromes: First Two-Year Results from South Italy | 1-gen-2022 | Paduano, Francesco; Colao, Emma; Fabiani, Fernanda; Rocca, Valentina; Dinatolo, Francesca; Dattola, Adele; D'Antona, Lucia; Amato, Rosario; Trapasso, Francesco; Baudi, Francesco; Perrotti, Nicola; Iuliano, Rodolfo | |
| A novel splicing variant of col2a1 in a fetus with achondrogenesis type ii: Interpretation of pathogenicity of in-frame deletions | 1-gen-2021 | Bruni, V.; Spoleti, C. B.; La Barbera, A.; Dattilo, V.; Colao, E.; Votino, C.; Bellacchio, E.; Perrotti, N.; Giglio, S.; Iuliano, R. | |
| Phenotypic Variability in Phelan-McDermid Syndrome and Its Putative Link to Environmental Factors | 1-gen-2022 | Luigi, Boccuto; Andrew, Mitz; MONTEBIANCO ABENAVOLI, Ludovico; Sara, M Sarasua; William, Bennett; Curtis, Rogers; Barbara, Dupont; Katy, Phelan | |
| A Python Clustering Analysis Protocol of Genes Expression Data Sets | 1-gen-2022 | Agapito, Giuseppe; Milano, Marianna; Cannataro, Mario | |
| Spotlight on a Short-Time Treatment with the IL-4/IL-13 Receptor Blocker in Patients with CRSwNP: microRNAs Modulations and Preliminary Clinical Evidence | 1-gen-2022 | Mimmi, Selena; Lombardo, Nicola; Maisano, Domenico; Piazzetta, Giovanna; Pelaia, Corrado; Pelaia, Girolamo; Greco, Marta; Foti, Daniela; Dattilo, Vincenzo; Iaccino, Enrico | |
| The Variant p.Ala84Pro Is Causative of X-Linked Hypophosphatemic Rickets: Possible Relationship with Burosumab Swinging Response in Adults | 1-gen-2022 | Zagari, Maria Carmela; Chiarello, Paola; Iuliano, Stefano; D'Antona, Lucia; Rocca, Valentina; Colao, Emma; Perrotti, Nicola; Greco, Francesca; Iuliano, Rodolfo; Aversa, Antonio |
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