MARTINEZ POPPLE, MARINA
MARTINEZ POPPLE, MARINA
100009 - Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili
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Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome
2023-01-01 Luísa Cabrita Pinto, Rute; Viaggi, Silvia; Canale, Edoardo; Martinez Popple, Marina; Capra, Valeria; Conteduca, Giuseppina; Testa, Barbara; Coviello, Domenico; Elvira Covone, Angela
Pediatric Opsoclonus-Myoclonus-Ataxia Syndrome can Lead to Long-Term Neurological, Neuropsychological, and Cognitive Sequelae Associated with Cerebellar Atrophy
2025-01-01 Martinez Popple, Marina; Severino, Mariasavina; Preiti, Deborah; Conte, Massimo; Pistorio, Angela; Zoia, Agata; Parodi, Costanza; Tortora, Domenico; Ambrosino, Valentina; Rossi, Andrea; Nobili, Lino; De Grandis, Elisa
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome | 1-gen-2023 | Luísa Cabrita Pinto, Rute; Viaggi, Silvia; Canale, Edoardo; Martinez Popple, Marina; Capra, Valeria; Conteduca, Giuseppina; Testa, Barbara; Coviello, Domenico; Elvira Covone, Angela | |
| Pediatric Opsoclonus-Myoclonus-Ataxia Syndrome can Lead to Long-Term Neurological, Neuropsychological, and Cognitive Sequelae Associated with Cerebellar Atrophy | 1-gen-2025 | Martinez Popple, Marina; Severino, Mariasavina; Preiti, Deborah; Conte, Massimo; Pistorio, Angela; Zoia, Agata; Parodi, Costanza; Tortora, Domenico; Ambrosino, Valentina; Rossi, Andrea; Nobili, Lino; De Grandis, Elisa |