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Publications by Corinna Hartmann

NovelGNB1missense Mutation in a Patient With Generalized Dystonia, Hypotonia, and Intellectual Disability

Neurology: Genetics

English

Pitfalls in Genetic Testing: The Story of missedSCN1Amutations

Molecular genetics & genomic medicine

Molecular Biology

English

Related publications

Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome

English

Kleptomania Treated With Naltrexone in a Patient With Intellectual Disability

Journal of Psychiatry and Neuroscience

Biological Psychiatry

English

Doctor-Patient Communication With People With Intellectual Disability - A Qualitative Study

BMC Family Practice

Family Practice

English

A Novel Missense OPA1 Mutation in a Patient With Dominant Optic Atrophy and Cervical Dystonia

Movement Disorders Clinical Practice

English

Copy Number Variants Are Frequent in Genetic Generalized Epilepsy With Intellectual Disability

English

GRIN1 Mutation Associated With Intellectual Disability Alters NMDA Receptor Trafficking and Function

Journal of Human Genetics

English

Intellectual Disability and Dysmorphic Features in Male Siblings Arising From a Novel TAF1 Mutation

Congenital Anomalies

Developmental Biology

English

A Novel Heterozygous ANO3 Mutation With Basal Ganglia Dysfunction in a Patient With Adult-Onset Isolated Segmental Dystonia

Journal of Clinical Neurology (Korea

English

An Intellectual Disability-Related Missense Mutation in Rac1 Prevents LTP Induction

Frontiers in Molecular Neuroscience

Molecular Neuroscience

Molecular Biology

English