Thomas Deufel

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

J. Weissenbach, J. Burgunder, J. Prud'homme, 2000, Human molecular genetics.

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe.

R. Ponzone, N. Gregersen, T. Deufel, 1993, Human heredity.

Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families.

S. Scherer, L. Tsui, D. Weghuis, 1994, Human molecular genetics.

Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 gene.

F. Lehmann-Horn, N. Roewer, T. Deufel, 1995, American journal of human genetics.