J Steen-Johnsen

Methylmalonic Acidemia a new inborn error of metabolism which may cause fatal acidosis in the neonatal period

Oddvar Stokke, L. Eldjarn, Kaare R. Norum et al. · Scandinavian Journal of Clinical and Laboratory Investigation · 1967 · 158 citations

Life Sciences, Biochemistry, Pediatrics +11

Macrocephaly with cutis marmorata, haemangioma and syndactyly ??? a distinctive overgrowth syndrome

Jill Clayton‐Smith, Bronwyn Kerr, Hans Brünner et al. · Clinical Dysmorphology · 1997 · 128 citations

Medicine, Anatomy, Pediatrics +16

Mumps Meningitis: Prolonged Pleocytosis and Occurrence of Mumps Virus-Specific Oligoclonal IgG in the Cerebrospinal Fluid

Bodvar Vandvik, Erling Norrby, J Steen-Johnsen et al. · European Neurology · 2008 · 106 citations

Medicine, Infectious Diseases, Neurology +15

Cytogenetic screening of a new‐born population

Inger‐Lise Hansteen, Kirsten Varslot, J Steen-Johnsen et al. · Clinical Genetics · 1982 · 70 citations

Life Sciences, Genetics, Pediatrics +17

Novel splicing mutation in the <i>NEMO</i> (<i>IKK‐gamma</i>) gene with severe immunodeficiency and heterogeneity of X‐chromosome inactivation

Karen Helene Ørstavik, Marianne Kristiansen, Gun Peggy Knudsen et al. · American Journal of Medical Genetics Part A · 2005 · 56 citations

Life Sciences, Genetics, Molecular Genetics +17