C. Eng

发表

Analysis of the RET,GDNF, EDN3, andEDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease

A. von Deimling, R. Hofstra, S. Koletzko, 2001, Gut.

Low frequency of RET mutations in Hirschsprung disease in Sweden

C. Eng, M. Anvret, A. Nordenskjöld, 1998, Clinical genetics.

Identification of a mutation in the structural alpha-L-fucosidase gene in fucosidosis.

E. Shooter, L. Cavalli-Sforza, J. Darby, 1988, American journal of human genetics.

Mutations in the endothelin‐receptor B gene in Hirschsprung disease in Sweden

M. Anvret, A. Nordenskjöld, C. Eng, 1999, Clinical genetics.

Endothelin-3 Gene Mutations in Isolated and Syndromic Hirschsprung Disease

A. Munnich, R. Salomon, S. Lyonnet, 1997, European journal of human genetics : EJHG.

Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy.

Robert J. Desnick, Christine M. Eng, Matteo A. Russo, 2001, The New England journal of medicine.

Mutation of RET codon 768 is associated with the FMTC phenotype

L. Mulligan, C. Eng, C. Joyce, 1997, Clinical genetics.

The role of gene mutations in the genesis of familial cancers

B. Ponder, C. Eng, 1993, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Germline V804M Mutation in the RET Proto-oncogene in Two Apparently Sporadic Cases of MTC Presenting in the Seventh Decade of Life

C. Eng, R. Hinze, O. Gimm, 1999 .

Presymptomatic genetic screening in families with multiple endocrine neoplasia type 2

L. Mulligan, C. Eng, C. Broelsch, 1995, Journal of Molecular Medicine.

Familial Basal Cell Carcinoma, Melanoma and Skin Hypersensitivity with GIST: A New Hereditary Neuroendocrine Syndrome Involving the SCF/KIT Pathway?

M. Shah, K. Sweet, C. Eng, 2001 .

Pulmonary involvement in Fabry disease.

C. Eng, R. Desnick, A. Miller, 1997, American journal of respiratory and critical care medicine.

Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene.

L. Mulligan, C. Eng, D. Marsh, 1994, Human molecular genetics.