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Publications by T. Roscioli
MED13L-related Intellectual Disability: Involvement of Missense Variants and Delineation of the Phenotype
Neurogenetics
Molecular Neuroscience
Genetics
Cellular
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An Intellectual Disability-Related Missense Mutation in Rac1 Prevents LTP Induction
Frontiers in Molecular Neuroscience
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TRAPPC9-related Autosomal Recessive Intellectual Disability: Report of a New Mutation and Clinical Phenotype
European Journal of Human Genetics
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Dosage Changes of MED13L Further Delineate Its Role in Congenital Heart Defects and Intellectual Disability
European Journal of Human Genetics
Genetics
Translational Applications of Protein Structure Simulation: Predicting Phenotype of Missense Variants
Biophysical Journal
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The Correlation Between Parental Involvement and Social Competence Behavior of Adolescents With Intellectual Disability
KnE Life Sciences
ANK3-related Intellectual Disability-Sleep Disturbance Syndrome
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation
American Journal of Human Genetics
Genetics
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome With Intellectual Disability and Developmental Delay
American Journal of Human Genetics
Genetics
De Novo Truncating Variants in PHF21A Cause Intellectual Disability and Craniofacial Anomalies
European Journal of Human Genetics
Genetics
