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The Journal of Clinical Endocrinology and Metabolism|October 7, 2023
A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase DeficiencyEriko Adachi, Ryuichi Nakagawa, Atsumi Tsuji-Hosokawa, et al.Scientific Reports|March 15, 2019
Frequency and clinical features of hearing loss caused by STRC deletionsYoh Yokota, Hideaki Moteki, Shin-Ya Nishio, et al.American Journal of Medical Genetics. Part A|April 22, 2021
Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosisHiroaki Hanafusa, Yoshihiko Hidaka, Tomomi Yamaguchi, et al.The Journal of Biological Chemistry|July 30, 2017
Funiculosin variants and phosphorylated derivatives promote innate immune responses via the Toll-like receptor 4/myeloid differentiation factor-2 complexNaoki Okamoto, Keisuke Mizote, Hiroe Honda, et al.American Journal of Medical Genetics. Part A|October 3, 2022
Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing systemTomomi Yamaguchi, Shujiro Hayashi, Daisuke Hayashi, et al.Nucleic Acids Research|November 28, 2023
Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencingAtsushi Hijikata, Mikita Suyama, Shingo Kikugawa, et al.Journal of Medical Genetics|November 24, 2021
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)Mari Minatogawa, Ai Unzaki, Hiroko Morisaki, et al.Pageof 8