Associated Papers
Investigation of Electrostatic Effects on Enyzme Catalysis: Insights from Computational Simulations of Monoamine Oxidase A Pathological Variants Leading to the Brunner Syndrome.
Rajić M et al.
Journal of Chemical Information and Modeling, 2025
Biogenic Amine Metabolism and Its Genetic Variations in Autism Spectrum Disorder: A Comprehensive Overview.
Tabolacci C et al.
Biomolecules, 2025
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother.
Minniti ML et al.
American Journal of Medical Genetics. Part A, 2024
New insights into Brunner syndrome and potential for targeted therapy.
Palmer EE et al.
Clinical Genetics, 2016
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Redin C et al.
Journal of Medical Genetics, 2014
20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.
Piton A et al.
European Journal of Human Genetics : Ejhg, 2014
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