Sfoglia per Autore
Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances
2021-01-01 Cerminara, M.; Spirito, G.; Pisciotta, L.; Squillario, M.; Servetti, M.; Divizia, M. T.; Lerone, M.; Berloco, B.; Boeri, S.; Nobili, L.; Vozzi, D.; Sanges, R.; Gustincich, S.; Puliti, A.
Autism Spectrum Disorder and other Neurodevelopmental Disorders: cytogenetic and genomic approaches
2021-10-25 Pisciotta, Livia
Phenotypic spectrum overview of patients with neurodevelopmental disorders sharing one recurrent copy number variant (CNV) and carrying different additional CNVs
2022-01-01 Servetti, Martina; Pisciotta, Livia; Tassano, Elisa; Cerminara, Maria; Fontana, Marco; Bagliani, Chiara; Nobili, Lino; Boeri, Silvia; Rosti, Giulia; Lerone, Margherita; Teresa Divizia, Maria; Zara, Federico; Ronchetto, Patrizia; Puliti, Aldamaria
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia
2022-01-01 Gemelli, C.; Traverso, M.; Trevisan, L.; Fabbri, S.; Scarsi, E.; Carlini, B.; Prada, V.; Mongini, T.; Ruggiero, L.; Patrone, S.; Gallone, S.; Iodice, R.; Pisciotta, L.; Zara, F.; Origone, P.; Rota, E.; Minetti, C.; Bruno, C.; Schenone, A.; Mandich, P.; Fiorillo, C.; Grandis, M.; Pisciotta, Livia
Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review
2022-01-01 Cordani, R.; Pisciotta, L.; Mancardi, M. M.; Stagnaro, M.; Prato, G.; Giacomini, T.; Morana, G.; Walsh, P.; Ghia, T.; Nobili, L.; De Grandis, E.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances | 1-gen-2021 | Cerminara, M.; Spirito, G.; Pisciotta, L.; Squillario, M.; Servetti, M.; Divizia, M. T.; Lerone, M.; Berloco, B.; Boeri, S.; Nobili, L.; Vozzi, D.; Sanges, R.; Gustincich, S.; Puliti, A. | |
| Autism Spectrum Disorder and other Neurodevelopmental Disorders: cytogenetic and genomic approaches | 25-ott-2021 | Pisciotta, Livia | |
| Phenotypic spectrum overview of patients with neurodevelopmental disorders sharing one recurrent copy number variant (CNV) and carrying different additional CNVs | 1-gen-2022 | Servetti, Martina; Pisciotta, Livia; Tassano, Elisa; Cerminara, Maria; Fontana, Marco; Bagliani, Chiara; Nobili, Lino; Boeri, Silvia; Rosti, Giulia; Lerone, Margherita; Teresa Divizia, Maria; Zara, Federico; Ronchetto, Patrizia; Puliti, Aldamaria | |
| An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia | 1-gen-2022 | Gemelli, C.; Traverso, M.; Trevisan, L.; Fabbri, S.; Scarsi, E.; Carlini, B.; Prada, V.; Mongini, T.; Ruggiero, L.; Patrone, S.; Gallone, S.; Iodice, R.; Pisciotta, L.; Zara, F.; Origone, P.; Rota, E.; Minetti, C.; Bruno, C.; Schenone, A.; Mandich, P.; Fiorillo, C.; Grandis, M.; Pisciotta, Livia | |
| Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review | 1-gen-2022 | Cordani, R.; Pisciotta, L.; Mancardi, M. M.; Stagnaro, M.; Prato, G.; Giacomini, T.; Morana, G.; Walsh, P.; Ghia, T.; Nobili, L.; De Grandis, E. |
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