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Journal of Pediatric Endocrinology & Metabolism : JPEM|January 25, 2019
Severe in utero under-virilization in a 46,XY patient with Silver-Russell syndrome with 11p15 loss of methylationMasanori Adachi, Maki Fukami, Masayo Kagami, et al.American Journal of Medical Genetics. Part A|December 7, 2013
Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of langer mesomelic dysplasiaTakayoshi Tsuchiya, Minoru Shibata, Hironao Numabe, et al.Endocrine Journal|May 10, 2013
Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiencyMaki Fukami, Manami Iso, Naoko Sato, et al.Endocrine Journal|September 4, 2020
Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature reviewYohei Masunaga, Yasuko Fujisawa, Mayumi Muramatsu, et al.Journal of Human Genetics|October 17, 2020
Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3Jessica Omark, Yohei Masunaga, Mark Hannibal, et al.Endocrine Journal|February 15, 2021
Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (PMM2) mutations for congenital disorder of glycosylationYohei Masunaga, Mie Mochizuki, Machiko Kadoya, et al.Scientific Reports|June 24, 2014
Rapid generation of mouse models with defined point mutations by the CRISPR/Cas9 systemMasafumi Inui, Mami Miyado, Maki Igarashi, et al.Steroids|November 3, 2020
Circulating steroids and mood disorders in patients with polycystic ovary syndromeTomoko Yoshida, Kazuki Saito, Toshihiro Kawamura, et al.The Journal of Steroid Biochemistry and Molecular Biology|January 1, 2018
Longitudinal serum and urine steroid metabolite profiling in a 46,XY infant with prenatally identified POR deficiencyHiroyuki Ono, Chikahiko Numakura, Keiko Homma, et al.Cytogenetic and Genome Research|January 11, 2018
A de novo 50-bp GNAS Intragenic Duplication in a Patient with Pseudohypoparathyroidism Type 1aErina Suzuki, Ryosuke Bo, Kaori Sue, et al.Pageof 32