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2023

ANUÁRIO DO HOSPITAL
DONA ESTEFÂNIA

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Arquivo

DIAGNOSTIC TARGETED RESEQUENCING IN 349 PATIENTS WITH DRUG-RESISTANT PEDIATRIC EPILEPSIES IDENTIFIES CAUSATIVE MUTATIONS IN 30 DIFFERENT GENES

Elena Parrini1, Carla Marini1, Davide Mei1, Anna Galuppi1, Elena Cellini1, Daniela Pucatti1, Laura Chiti1, Domenico Rutigliano1, Claudia Bianchini1, Simona Virdò1, Dalila De Vita1, Stefania Bigoni2, Carmen Barba1, Francesco Mari1, Martino Montomoli1, Tiziana Pisano1, Anna Rosati1, Clinical Study Group (including Sandra Jacinto)3 and Renzo Guerrini1