Frans A. Hol

Mapping a gene for Noonan syndrome to the long arm of chromosome 12

C. Ruth Jamieson, Ineke van der Burgt, Angela F. Brady et al. · Nature Genetics · 1994 · 290 citations

Life Sciences, Genetics, Molecular Genetics +9

Mitochondrial disease criteria

Éva Morava, Lambertus P. van den Heuvel, Frans A. Hol et al. · Neurology · 2006 · 277 citations

Life Sciences, Genetics, Pediatrics +17

Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate‐dehydrogenase, methenyltetrahydrofolate‐cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects

Frans A. Hol, Nathalie MJ van der Put, M.P.A. Geurds et al. · Clinical Genetics · 1998 · 155 citations

Life Sciences, Genetics, Molecular Genetics +17

A novel mitochondrial <i>ATP8</i> gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy

An I. Jonckheere, Marije Hogeveen, Leo Nijtmans et al. · Journal of Medical Genetics · 2007 · 118 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Susceptibility to spina bifida; an association study of five candidate genes

Katie Morrison, Charalambos Papapetrou, Frans A. Hol et al. · Annals of Human Genetics · 1998 · 117 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14