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Laura Portale
Laura Portale
University of Catania
Genetics
Phenotype
Biology
RNASEH2B gene
Aicardi–Goutières syndrome
3
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PRRT2 Related Epilepsies: A Gene Review
2021
Journal of pediatric neurology
Carmela Rita Massimino
Laura Portale
Annamaria Sapuppo
Francesco Pizzo
Laura Sciuto
Catia Romano
Stefania Salafia
Raffaele Falsaperla
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GRIN2A and GRIN2B and Their Related Phenotypes
2021
Journal of pediatric neurology
Annamaria Sapuppo
Laura Portale
Carmela Rita Massimino
Santiago Presti
Lucia Tardino
Simona Domenica Marino
Agata Polizzi
Raffaele Falsaperla
Andrea D. Praticò
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Aicardi–Goutières Syndrome Type 2: A Report on Two Cases with Different Phenotypes Caused by RNASEH2B Gene Mutations
2020
Journal of pediatric neurology
Anna Portale
Marina Mazzurco
Laura Portale
Piero Pavone
Enrico Bertini
Agata Polizzi
Andrea D. Praticò
Martino Ruggieri
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