Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Pavel Seeman

Mutations in the RNA Exosome Component Gene EXOSC3 Cause Pontocerebellar Hypoplasia and Spinal Motor Neuron Degeneration

Nature Genetics

English

Hot-Spot Residue in Small Heat-Shock Protein 22 Causes Distal Motor Neuropathy

Nature Genetics

English

Phenotypic Variability of Patients Homozygous for the GJB2 Mutation 35delG Cannot Be Explained by the Influence of One Major Modifier Gene

European Journal of Human Genetics

English