Kirstine Ravn

Early onset seizures and Rett-like features associated with mutations in CDKL5

Julie Evans, Hayley Archer, James Colley et al. · European Journal of Human Genetics · 2005 · 173 citations · Full text

Early Onset Seizures, Rett-like Features, Genetic Disorder +7

An mtDNA mutation, 14453G→A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome

Kirstine Ravn, Flemming Wibrand, Flemming Juul Hansen et al. · European Journal of Human Genetics · 2001 · 98 citations · Full text

Severe Melas Syndrome, Mendelian Disorder, Genetic Disorder +9

Succinate‐CoA ligase deficiency due to mutations in <i>SUCLA2</i> and <i>SUCLG1</i>: phenotype and genotype correlations in 71 patients

Rosalba Carrozzo, Daniela Verrigni, Magnhild Rasmussen et al. · Journal of Inherited Metabolic Disease · 2015 · 87 citations

Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome <i>b</i> gene

Flemming Wibrand, Kirstine Ravn, Marianne Schwartz et al. · Annals of Neurology · 2001 · 75 citations

CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria

Carol Saunders, Laurie D. Smith, Flemming Wibrand et al. · The American Journal of Human Genetics · 2015 · 73 citations · Full text

Clpb Variants Associated, Autosomal-recessive Mitochondrial Disorder, Mendelian Disorder +9