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Human Reproduction (Oxford, England)|March 21, 2024
Systematic molecular analyses for 115 karyotypically normal men with isolated non-obstructive azoospermiaYuki Muranishi, Yoshitomo Kobori, Yuko Katoh-Fukui, et al.
European Journal of Endocrinology|April 2, 2025
Germline-derived GNAS-Gsα variants associated with both gain-of-function and loss-of-function phenotypesAtilano Carcavilla, Arrate Pereda, Mami Miyado, et al.
Human Genome Variation|January 25, 2019
(Epi)genetic defects of <i>MKRN3</i> are rare in Asian patients with central precocious pubertyErina Suzuki, Hirohito Shima, Masayo Kagami, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|February 7, 2018
Adrenocortical carcinoma characterized by gynecomastia: A case reportTakako Takeuchi, Yuko Yoto, Akira Ishii, et al.
European Journal of Human Genetics : EJHG|July 24, 2019
Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)Kaori Yamoto, Hirotomo Saitsu, Gen Nishimura, et al.
The Journal of Clinical Endocrinology and Metabolism|September 26, 2024
Comprehensive Study on Central Precocious Puberty: Molecular and Clinical Analyses in 90 PatientsHiromune Narusawa, Tomoe Ogawa, Hideaki Yagasaki, et al.
Scientific Reports|April 5, 2024
Expression levels and DNA methylation profiles of the growth gene SHOX in cartilage tissues and chondrocytesAtsushi Hattori, Atsuhito Seki, Naoto Inaba, et al.
Clinical Epigenetics|October 5, 2024
Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbanceTatsuki Urakawa, Hidenobu Soejima, Kaori Yamoto, et al.
The Journal of Clinical Endocrinology and Metabolism|September 24, 2019
IGF2 MutationsYohei Masunaga, Takanobu Inoue, Kaori Yamoto, et al.
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