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Human Mutation|September 10, 2016
Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular TissuesMaki Igarashi, Kei Takasawa, Akiko Hakoda, et al.The Journal of Clinical Endocrinology and Metabolism|October 7, 2023
A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase DeficiencyEriko Adachi, Ryuichi Nakagawa, Atsumi Tsuji-Hosokawa, et al.Pediatrics International : Official Journal of the Japan Pediatric Society|September 22, 2025
Severe hepatic steatosis contributes to liver dysfunction in non-obese patients with insulin-resistant diabetes mellitus after hematopoietic stem cell transplantationHaruki Yamano, Reiko Kagawa, Yoko Saito, et al.Endocrine Journal|November 24, 2025
Congenital adrenal hypoplasia with neurodevelopmental delay due to contiguous Xp21 deletion: a case series with review of literatureMaki Gau, Ryosei Iemura, Ryuta Orimoto, et al.Journal of Diabetes Investigation|March 22, 2019
Pregnancy outcome of Japanese patients with glucokinase-maturity-onset diabetes of the youngYuki Hosokawa, Shinji Higuchi, Rie Kawakita, et al.Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|October 3, 2024
Familial and early recurrent pheochromocytoma in a child with a novel in-frame duplication variant of VHLYuri Suzuki, Ryosei Iemura, Akito Sutani, et al.Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|July 12, 2024
Clinical management of diazoxide-unresponsive congenital hyperinsulinism: A single-center experienceKei Takasawa, Ryosei Iemura, Ryuta Orimoto, et al.Human Molecular Genetics|February 8, 2022
Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiencyRyuichi Nakagawa, Kei Takasawa, Maki Gau, et al.Clinical Immunology (Orlando, Fla.)|July 20, 2024
Pathogenic role and diagnostic utility of interferon-α in histiocytic necrotizing lymphadenitisShuya Kaneko, Asami Shimbo, Hitoshi Irabu, et al.Pageof 7