Showing results (271-280 of 319) with videos related to
Sort By:
Pageof 32
Journal of the American Society of Nephrology : JASN|April 10, 2019
Germline-Derived Gain-of-Function Variants of Gs<i>α</i>-Coding <i>GNAS</i> Gene Identified in Nephrogenic Syndrome of Inappropriate AntidiuresisMami Miyado, Maki Fukami, Shuji Takada, et al.The Journal of Clinical Endocrinology and Metabolism|December 8, 2009
Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotypeSumito Dateki, Kitaro Kosaka, Kosei Hasegawa, et al.Journal of Cellular and Molecular Medicine|March 25, 2017
Paradoxical gain-of-function mutant of the G-protein-coupled receptor PROKR2 promotes early pubertyMaki Fukami, Erina Suzuki, Yoko Izumi, et al.The Journal of Clinical Endocrinology and Metabolism|April 8, 2011
Aromatase excess syndrome: identification of cryptic duplications and deletions leading to gain of function of CYP19A1 and assessment of phenotypic determinantsMaki Fukami, Makio Shozu, Shun Soneda, et al.FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|May 8, 2013
Human glutathione S-transferase A (GSTA) family genes are regulated by steroidogenic factor 1 (SF-1) and are involved in steroidogenesisTakehiro Matsumura, Yoshitaka Imamichi, Tetsuya Mizutani, et al.Genome Medicine|November 19, 2025
A comprehensive long-read sequencing system to assess DNA methylation at differentially methylated regions and imprinting-disorder-related genesTatsuki Urakawa, Atsushi Hattori, Yasuko Ogiwara, et al.International Journal of Molecular Sciences|September 28, 2023
The Structural Abnormalities Are Deeply Involved in the Cause of <i>RPGRIP1</i>-Related Retinal Dystrophy in Japanese PatientsKaoruko Torii, Sachiko Nishina, Hazuki Morikawa, et al.The Journal of Clinical Endocrinology and Metabolism|October 16, 2004
Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patientsMaki Fukami, Reiko Horikawa, Toshiro Nagai, et al.Fertility and Sterility|July 28, 2014
Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadismYoko Izumi, Erina Suzuki, Susumu Kanzaki, et al.JAMA Network Open|January 20, 2026
Parental Age and Childhood Allergy RiskKiwako Yamamoto-Hanada, Daisuke Harama, Miori Sato, et al.Pageof 32