François Eyskens

Respiratory chain complex V deficiency due to a mutation in the assembly gene <i>ATP12</i>

Sara Seneca, Willy Lissens, Inge De Clercq et al. · Journal of Medical Genetics · 2004 · 197 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The natural history of classic galactosemia: lessons from the GalNet registry

M. Estela Rubio‐Gozalbo, Minela Haskovic, Annet M. Bosch et al. · Orphanet Journal of Rare Diseases · 2019 · 148 citations · Full text

Medicine, Endocrinology, Pediatrics +16

Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy

Nikhita Bolar, Arnaud Vanlander, Claudia Wilbrecht et al. · Human Molecular Genetics · 2013 · 118 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Deletion of PREPL, a Gene Encoding a Putative Serine Oligopeptidase, in Patients with Hypotonia-Cystinuria Syndrome

Jaak Jaeken, Kevin Martens, Inge François et al. · The American Journal of Human Genetics · 2005 · 91 citations · Full text

Medicine, Molecular Genetics, Molecular Medicine +3

Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients

André B. P. Kuilenburg, Doreen Dobritzsch, Judith Meijer et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2010 · 81 citations

Life Sciences, Genetics, Molecular Genetics +7