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Publications by Andreas Tzschach

Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

American Journal of Human Genetics

English

ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions

American Journal of Human Genetics

English

BOD1 Is Required for Cognitive Function in Humans and Drosophila

Molecular Biology

Cancer Research

English

KCNC1 ‐related Disorders: New De Novo Variants Expand the Phenotypic Spectrum

Annals of Clinical and Translational Neurology

English

Platelet Defects in Congenital Variant of Rett Syndrome Patients With FOXG1 Mutations or Reduced Expression Due to a Position Effect at 14q12

European Journal of Human Genetics

English

Identification of a Nonsense Mutation in the Very Low-Density Lipoprotein Receptor Gene (VLDLR) in an Iranian Family With Dysequilibrium Syndrome

European Journal of Human Genetics

English

An Autosomal Recessive Syndrome of Severe Mental Retardation, Cataract, Coloboma and Kyphosis Maps to the Pericentromeric Region of Chromosome 4

European Journal of Human Genetics

English

Structural Variation in Xq28: MECP2 Duplications in 1% of Patients With Unexplained XLMR and in 2% of Male Patients With Severe Encephalopathy

European Journal of Human Genetics

English