Kanako Kojima‐Ishii

De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia

Ryoko Fukai, Hirotomo Saitsu, Nobuhiko Okamoto et al. · Journal of Human Genetics · 2016 · 44 citations

Intellectual Impairment, Missense Mutations, Developmental Biology +9

Physical, cognitive, and social status of patients with urea cycle disorders in Japan

Jun Kido, Shirou Matsumoto, Tetsuya Ito et al. · Molecular Genetics and Metabolism Reports · 2021 · 30 citations · Full text

Metabolic Disorder, Genetic Epidemiology, Social Support +20

Clinical manifestation and long‐term outcome of citrin deficiency: Report from a nationwide study in Japan

Jun Kido, Johannes Häberle, Keishin Sugawara et al. · Journal of Inherited Metabolic Disease · 2022 · 30 citations · Full text

Malignant transformation of phosphaturic mesenchymal tumor: a case report and literature review

Noriko Oyama, Kanako Kojima‐Ishii, Naoko Toda et al. · Clinical Pediatric Endocrinology · 2020 · 29 citations · Full text

Hyperinsulinemic hypoglycemia of infancy in Sotos syndrome

Terumichi Matsuo, Kenji Ihara, Masayuki Ochiai et al. · American Journal of Medical Genetics Part A · 2012 · 27 citations

Down Syndrome, Sotos Syndrome, Electrolyte Disorder +13