Kazuki Okajima

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

Takaya Oda, Abdel Elkahloun, Brian L. Pike et al. · Nature Genetics · 1997 · 1.2K citations

Mendelian Disorder, Human Jagged1 Gene, Genetic Disorder +8

Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: Lack of correlation with genotype

Suzanne D. DeBrosse, Kazuki Okajima, Shulin Zhang et al. · Molecular Genetics and Metabolism · 2012 · 112 citations

Neurodegenerative Diseases, Survival Outcomes, Metabolic Disorder +10

Sensitive enzyme immunoassay for human Cu/Zn superoxide dismutase

Naomi Kurobe, Fujiko Suzuki, Kazuki Okajima et al. · Clinica Chimica Acta · 1990 · 63 citations

Sensitive Enzyme, Allergy, Bioactive Metal +7

Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families.

Mariko Suchi, Haruo Mizuno, Yoko Kawai et al. · PubMed · 1997 · 60 citations

Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3

Daniela N. Schweitzer, John M. Graham, Ralph S. Lachman et al. · American Journal of Medical Genetics · 2000 · 57 citations