D. Koch

发表

Mutation screening of MSH2 and MLH1 mRNA in hereditary non-polyposis colon cancer syndrome.

B. Ponder, D. Evans, S. Hodgson, 1996, Journal of medical genetics.

ORAL D-GALACTOSE SUPPLEMENTATION IN PGM1-CDG

M. He, C. Thiel, T. Gadomski, 2017, Genetics in Medicine.

Post‐mortem stability of dopamine. glutamate decarboxylase and choline acetyltransferase in the mouse brain under conditions simulating the handling of human autopsy material

E. Spokes, D. Koch, 1978, Journal of neurochemistry.

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.

D. Conrad, C. Stanley, S. Wortmann, 2016, The Journal of pediatrics.

Evaluation of molecular genetic diagnosis in the management of familial adenomatous polyposis coli: a population based study.

Y. Nakamura, D. Barton, H. Nagase, 1993, Journal of medical genetics.

Compound heterozygous mutations in the γ‐glutamyl carboxylase gene cause combined deficiency of all vitamin K‐dependent blood coagulation factors

J. Oldenburg, A. Fregin, S. Rost, 2004, British journal of haematology.

MSH2 sequence variations and inherited colorectal cancer susceptibility.

D. Evans, J. Joyce, E. Maher, 1996, European journal of cancer.

Incidence and significance of congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial adenomatous polyposis coli (FAPC).

A. Moore, E. Maher, D. Koch, 1992, Ophthalmic paediatrics and genetics.

Novel and Recurrent Mutations in the Gamma-Glutamyl Carboxylase (GGCX) Gene

E. Seifried, J. Oldenburg, C. Geisen, 2005 .

First Case of Compound Heterozygosity in the Gamma- Glutamyl Carboxylase Gene Causing Combined Deficiency of all Vitamin K-Dependent Blood Coagulation Factors

J. Oldenburg, A. Fregin, S. Rost, 2004 .