Ola H. Skjeldal

An update on clinically applicable diagnostic criteria in Rett syndrome

Bengt Hagberg, F. Hanefeld, Alan K. Percy et al. · European Journal of Paediatric Neurology · 2002 · 394 citations

Medicine, Neurology, Neuropathology +6

Refsum disease is caused by mutations in the phytanoyl–CoA hydroxylase gene

Gerbert A. Jansen, Rob Oftnan, Sacha Ferdinandusse et al. · Nature Genetics · 1997 · 306 citations

Life Sciences, Genetics, Molecular Genetics +8

Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups

Ann B. Moser, Magnhild Rasmussen, Sakkubai Naidu et al. · The Journal of Pediatrics · 1995 · 244 citations

Life Sciences, Genetics, Human Genetics +12

Rett variants: A suggested model for inclusion criteria

Bengt Hagberg, Ola H. Skjeldal · Pediatric Neurology · 1994 · 215 citations

Education, Educational Measurement, Item Response Theory +6

Assignment of an autosomal sex reversa– locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3–q25.1

Niels Tommerup, W. Schempp, Peter Meinecke et al. · Nature Genetics · 1993 · 194 citations

Life Sciences, Genetics, Molecular Genetics +12