R. de Franchis

The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.

Gianfranco Sebastio, Maria Pia Sperandeo, Maria Panico et al. · PubMed · 1995 · 166 citations

A potent inhibitor of<i>Taq</i>polymerase copurifies with human genomic DNA

R. de Franchis, Nicholas C.P. Cross, Nicholas S. Foulkes et al. · Nucleic Acids Research · 1988 · 146 citations

Human Genomic Dna, Italy Search, Immunodeficiencies +19

The Human Cystathionine β-Synthase (CBS) Gene: Complete Sequence, Alternative Splicing, and Polymorphisms

Jan P. Kraus, Jana Oliveriusová, Jitka Sokolová et al. · Genomics · 1998 · 123 citations

Complete Sequence, Genetic Disorder, Medicine +12

Molecular analysis of aldolase B genes in hereditary fructose intolerance

Nicholas C.P. Cross, Timothy M. Cox, R. de Franchis et al. · The Lancet · 1990 · 120 citations

Aldo-keto Reductase, Cellular Enzymology, Biochemistry +7

The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy.

R. de Franchis, Anna Buoninconti, Claudia Mandato et al. · Journal of Medical Genetics · 1998 · 75 citations · Full text