Showing results (21-30 of 69) with videos related to
Sort By:
Pageof 7
American Journal of Medical Genetics. Part A|October 25, 2016
Abdominal paraganglioma in a young woman with 1p36 deletion syndromeMiki Murakoshi, Kei Takasawa, Masato Nishioka, et al.Clinical Endocrinology|December 31, 2013
Two novel HSD3B2 missense mutations with diverse residual enzymatic activities for Δ5-steroidsKei Takasawa, Makoto Ono, Atsushi Hijikata, et al.Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|February 7, 2018
Perinatal factors affecting growth and development at age 3 years in extremely low birth weight infants born small for gestational ageNozomi Matsuda, Atsuko Taki, Atsumi Tsuji, et al.Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|February 3, 2018
Phenotypic Variation in 46,XX Disorders of Sex Development due to the NR5A1 p.R92W Variant: A Sibling Case Report and Literature ReviewKei Takasawa, Maki Igarashi, Makoto Ono, et al.Frontiers in Endocrinology|February 6, 2023
A novel variant of NR5A1, p.R350W implicates potential interactions with unknown co-factors or ligandsMaki Gau, Ryota Suga, Atsushi Hijikata, et al.Journal of Human Genetics|November 17, 2018
A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitusMisako Nagatsuma, Kei Takasawa, Takeru Yamauchi, et al.Pediatric Diabetes|July 20, 2019
Hematopoietic stem cell transplantation recovers insulin deficiency in type 1 diabetes mellitus associated with IPEX syndromeTakeru Yamauchi, Kei Takasawa, Takahiro Kamiya, et al.Brain & Development|June 7, 2025
Endocrinological study of low-dose adrenocorticotropic hormone therapy without tapering in infantile epileptic spasms syndromeShumpei Morita, Taisuke Yamauchi, Yumie Tamura, et al.Pediatric Diabetes|February 10, 2017
Molecular mechanisms of insulin resistance in 2 cases of primary insulin receptor defect-associated diseasesAtsumi Tsuji-Hosokawa, Kei Takasawa, Risa Nomura, et al.Modern Rheumatology Case Reports|July 8, 2022
Atrophic autoimmune thyroiditis complicated with systemic lupus erythematosusRyosuke Wakatsuki, Masaki Shimizu, Asami Shimbo, et al.Pageof 7