19p13.1-13.2

Liposarcomas are a representative group of soft tissue sarcomas with variably hampered adipogenesis, which is most exemplified by… Expand

Abstract: Mutations in the Dynamin 2 gene (DNM2) cause autosomal dominant centronuclear myopathy or autosomal dominant (AD… Expand

Postaxial polydactyly is characterised by fifth digit duplications in hands and/or feet. Two phenotypic varieties have been… Expand

In previous reports, we used microcell fusion‐mediated chromosomal transfer to introduce normal human chromosomes into highly… Expand

We report here the results of clinical, neuroimaging and genetic studies of autosomal dominant dementia and leukoencephalopathy… Expand

The nucleotide and deduced amino acid sequences of human basic and acidic calponins were determined. The basic calponin cDNA from… Expand