[1]. FIGLAホモ接合性ミスセンスバリアントにより早発卵巣不全を発症した姉妹例
日本小児遺伝学会学術集会プログラム・抄録集 [Volume]47th (2026/) [Reviewed] No
[2]. Novel HK1 intronic variant in congenital hyperinsulinism: impaired transactivation function for FOXA2.
European journal of endocrinology (2026/) [Reviewed] Yes
[3]. De novo GNAS-Gsα variant (p.Thr55Ala) with constitutive gain-of-function effects on AVPR2 and PTH1R signalings.
Journal of human genetics (2026/) [Reviewed] Yes
[DOI] [4]. Comprehensive Molecular Studies in 88 Japanese Patients With Congenital Hypogonadotropic Hypogonadism.
The Journal of clinical endocrinology and metabolism (2025/) [Reviewed] Yes
[5]. Homozygous missense variant in two Japanese sisters with primary ovarian insufficiency: Case reports and literature review.
Reproductive medicine and biology [Volume]24 [Issue]1 [Page]e12635 (2025/) [Reviewed] Yes