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Publications by Daniele Frattini

Early Infantile SCN1A Epileptic Encephalopathy: Expanding the Genotype-Phenotype Correlations

Seizure : the journal of the British Epilepsy Association

English

Related publications

Expanding the Phenotype Half of the Genotype−phenotype Space

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

Epileptic Encephalopathy

Journal of Child Neurology

English

Phenotype-Genotype Correlations in X Linked Retinitis Pigmentosa.

Journal of Medical Genetics

English

Re-Annotation of 191 Developmental and Epileptic Encephalopathy-Associated Genes Unmasks De Novo Variants in SCN1A

npj Genomic Medicine

Molecular Biology

English

SCN2A-Related Early-Onset Epileptic Encephalopathy Responsive to Phenobarbital

Journal of Pediatric Epilepsy

English

Genotype-Phenotype Correlations in PCD Patients Carrying DNAH5 Mutations

Respiratory Medicine

English

Expanding the Phenotype of DST‐related Disorder: A Case Report Suggesting a Genotype/Phenotype Correlation

American Journal of Medical Genetics, Part A

English

A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations

Journal of Developmental and Behavioral Pediatrics

Educational Psychology

English

Genotype-Phenotype Correlations in Type B Niemann-Pick Disease • 725

Pediatric Research

English