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Publications by Rudolf Schemm

Lipid Binding Defects and Perturbed Synaptogenic Activity of a Collybistin R290H Mutant That Causes Epilepsy and Intellectual Disability

Journal of Biological Chemistry

Molecular Biology

English

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Mutant SNAP25B Causes Myasthenia, Cortical Hyperexcitability, Ataxia, and Intellectual Disability

English

Pachygyria-Intellectual Disability-Epilepsy Syndrome

English

Genetic and Neurodevelopmental Spectrum ofSYNGAP1-associated Intellectual Disability and Epilepsy

Journal of Medical Genetics

English

Perampanel and Challenging Behaviour in Intellectual Disability and Epilepsy: A Management Dilemma

Case Reports in Psychiatry

English

X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome

English

Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome

English

Severe Intellectual Disability Associated With Recessive Defects in CNTNAP2 and NRXN1

Molecular Syndromology

English

Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia

English

Heterozygous Loss-Of-Function Variants of MEIS2 Cause a Triad of Palatal Defects, Congenital Heart Defects, and Intellectual Disability

European Journal of Human Genetics

English