Meral Özgüç

Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome

Caroline Lefèvre, Florence Jobard, F. Caux et al. · The American Journal of Human Genetics · 2001 · 460 citations · Full text

Mendelian Disorder, Biochemistry, Genetic Disorder +10

Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population

Engin Yılmaz, Seza Özen, Ali Düzova et al. · European Journal of Human Genetics · 2001 · 325 citations · Full text

Genetic Disorder, Medicine, Genetics +12

Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis

Caroline Lefèvre, B. Bouadjar, Ayşen Karaduman et al. · Human Molecular Genetics · 2004 · 173 citations · Full text

Developmental Anomaly, Developmental Biology, New Form +13

l-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1

Meral Topçu, Florence Jobard, Sophie Halliez et al. · Human Molecular Genetics · 2004 · 129 citations · Full text

L-2-hydroxyglutaric Aciduria, Mendelian Disorder, Biochemistry +12

Vacuoliting Megalencephalic Leukoencephalopathy with Subcortical Cysts, Mapped to Chromosome 22qtel

Meral Topçu, Corine Gartioux, Florence Ribiérre et al. · The American Journal of Human Genetics · 2000 · 94 citations · Full text

Neurobiology Of Disease, Neurological Disorder, Neuroanatomy +7