Concepedia

Roel Smeets

RS

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Publications

33

Citations

2.7K

H-Index

24

Active since

1998

Affiliations

Radboud University Nijmegen(Current)

Radboud University Medical Center

Radboud Institute for Molecular Life Sciences

University of Amsterdam

Erasmus University Rotterdam

Roel Smeets is an author at Radboud University Nijmegen specializing in genetics, life sciences, and medical genetics.

Publications per year

1998–2022

33

Publications

33

The First Nuclear-Encoded Complex I Mutation in a Patient with Leigh Syndrome

Jan Loeffen, Ralf Triepels, Roel Smeets et al. · The American Journal of Human Genetics · 1998 · 285 citations · Full text

, , +7

Demonstration of a New Pathogenic Mutation in Human Complex I Deficiency: A 5-bp Duplication in the Nuclear Gene Encoding the 18-kD (AQDQ) Subunit

Lambert van den Heuvel, W. Ruitenbeek, Roel Smeets et al. · The American Journal of Human Genetics · 1998 · 264 citations · Full text

, , +7

Mutations in the complex INDUFS2 gene of patients with cardiomyopathy and encephalomyopathy

Jan Loeffen, Orly Elpeleg, Jan Smeitink et al. · Annals of Neurology · 2001 · 193 citations

, , +12

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I

Ralf Triepels, Lambertus P. van den Heuvel, Jan Loeffen et al. · Annals of Neurology · 1999 · 193 citations · Full text

, , +17

Combined Enzymatic Complex I and III Deficiency Associated with Mutations in the Nuclear Encoded NDUFS4 Gene

Sandy Budde, Lambert P.W.J. van den Heuvel, A.J.M. Janssen et al. · Biochemical and Biophysical Research Communications · 2000 · 186 citations

, , +9

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