Concepedia

R. de Franchis

RD

Statistics

Publications

20

Citations

1.1K

H-Index

18

Active since

1988

Affiliations

Federico II University Hospital(Current)

University of Colorado Denver

University of Naples Federico II

Istituto Giannina Gaslini

Charles University

R. de Franchis is an author at Federico II University Hospital specializing in life sciences, medical genetics, and genetics.

Publications per year

1988–2022

20

Publications

20

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

, , +11

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 · 147 citations

, , +8

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

Jan P. Kraus, Jana Oliveriusová, Jitka Sokolová et al. · Genomics · 1998 · 126 citations

, , +7

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 · 122 citations

, , +16

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

, , +17

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