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Diagnostic Targeted Resequencing in 349 Patients with Drug‐Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes
by
Parrini, Elena
,
Marini, Carla
,
Mei, Davide
,
Galuppi, Anna
,
Cellini, Elena
,
Pucatti, Daniela
,
Chiti, Laura
,
Rutigliano, Domenico
,
Bianchini, Claudia
,
Virdò, Simona
,
Vita, Dalila
,
Bigoni, Stefania
,
Barba, Carmen
,
Mari, Francesco
,
Montomoli, Martino
,
Pisano, Tiziana
,
Rosati, Anna
,
Guerrini, Renzo
Published in
Human mutation
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Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes: HUMAN MUTATION
by
Parrini, Elena
,
Marini, Carla
,
Mei, Davide
,
Galuppi, Anna
,
Cellini, Elena
,
Pucatti, Daniela
,
Chiti, Laura
,
Rutigliano, Domenico
,
Bianchini, Claudia
,
Virdò, Simona
,
De Vita, Dalila
,
Bigoni, Stefania
,
Barba, Carmen
,
Mari, Francesco
,
Montomoli, Martino
,
Pisano, Tiziana
,
Rosati, Anna
,
Guerrini, Renzo
Published in
Human mutation
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Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations
by
Marini, Carla
,
Romoli, Michele
,
Parrini, Elena
,
Costa, Cinzia
,
Mei, Davide
,
Mari, Francesco
,
Parmeggiani, Lucio
,
Procopio, Elena
,
Metitieri, Tiziana
,
Cellini, Elena
,
Virdò, Simona
,
De Vita, Dalila
,
Gentile, Mattia
,
Prontera, Paolo
,
Calabresi, Paolo
,
Guerrini, Renzo
Published in
Neurology. Genetics
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Human Mutation
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Neurology. Genetics
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Adolescent
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Age Of Onset
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Alleles
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Anticonvulsants - Pharmacology
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Anticonvulsants - Therapeutic Use
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Child
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Child, Preschool
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Computational Biology - Methods
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Drug Resistance
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Drug Resistance - Genetics
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Epilepsy
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Epilepsy - Diagnosis
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Epilepsy - Drug Therapy
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Epilepsy - Genetics
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Female
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Gene Expression Profiling
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Gene Panel
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Genes
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Genetic Association Studies
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Genetic Predisposition To Disease
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