Tohru Yorifuji

Neonatal Diabetes Mellitus and Neonatal Polycystic, Dysplastic Kidneys: Phenotypically Discordant Recurrence of a Mutation in the Hepatocyte Nuclear Factor-1β Gene Due to Germline Mosaicism

Tohru Yorifuji, Keiji Kurokawa, Mitsukazu Mamada et al. · The Journal of Clinical Endocrinology & Metabolism · 2004 · 130 citations · Full text

The C42R Mutation in the Kir6.2 (KCNJ11) Gene as a Cause of Transient Neonatal Diabetes, Childhood Diabetes, or Later-Onset, Apparently Type 2 Diabetes Mellitus

Tohru Yorifuji, Kazuaki Nagashima, Keiji Kurokawa et al. · The Journal of Clinical Endocrinology & Metabolism · 2005 · 122 citations · Full text

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients

Masayo Kagami, Keisuke Nagasaki, Rika Kosaki et al. · Genetics in Medicine · 2017 · 122 citations · Full text

Craniotabes in Normal Newborns: The Earliest Sign of Subclinical Vitamin D Deficiency

Junko Yorifuji, Tohru Yorifuji, Kenji Tachibana et al. · The Journal of Clinical Endocrinology & Metabolism · 2008 · 120 citations

Long‐term outcome and intervention of urea cycle disorders in Japan

Jun Kido, Kimitoshi Nakamura, Hiroshi Mitsubuchi et al. · Journal of Inherited Metabolic Disease · 2011 · 117 citations