Immunomodulatory gene therapy in lysosomal storage disorders

по Koeberl, D.D., Kishnani, P.S.
Опубликовано 2009

Glycogen storage disease types I and II: Treatment updates

по Koeberl, D. D., Kishnani, P. S., Chen, Y. T.
Опубликовано 2007

Prenatal diagnosis of 45,X/46,XX mosaicism and 45,X: implications for postnatal outcome.

по Koeberl, D D, McGillivray, B, Sybert, V P
Опубликовано 1995

Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG.

по Koeberl, D D, Bottema, C D, Buerstedde, J M, Sommer, S S
Опубликовано 1989

Mutations at arginine residues in two Asian hemophilia B patients.

по Bottema, C D, Ketterling, R P, Koeberl, D D, Taylor, S A, Sommer, S S
Опубликовано 1990

Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene.

по Koeberl, D D, Bottema, C D, Ketterling, R P, Bridge, P J, Lillicrap, D P, Sommer, S S
Опубликовано 1990