R. Plante

Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation.

M. Tuchman, C. Whitley, S. Berry, 1996, American journal of medical genetics.

The effect of the composition of unrelated donor bone marrow and peripheral blood progenitor cell grafts on transplantation outcomes.

J. Wagner, S. Spellman, M. Setterholm, 2010, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

The biochemical and molecular spectrum of ornithine transcarbamylase deficiency

H. Morizono, N. Allewell, M. Tuchman, 1998, Journal of Inherited Metabolic Disease.

Identification of ‘private’ mutations in patients with ornithine transcarbamylase deficiency

M. Tuchman, H. Morizono, N. Allewell, 1997, Journal of Inherited Metabolic Disease.

Seven new mutations in the human ornithine transcarbamylase gene

M. Tuchman, M. McCann, A. Qureshi, 1994, Human mutation.

Mutations and polymorphisms in the human ornithine transcarbamylase gene: Mutation update addendum

M. Tuchman, R. Plante, 1995, Human mutation.

Four new mutations in the ornithine transcarbamylase gene.

M. Tuchman, O. Reish, R. Plante, 1993, Biochemical medicine and metabolic biology.