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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.American Journal of Medical Genetics. Part A|January 27, 2010
Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1BYukako Muramatsu, Tomoki Kosho, Miyuki Magota, et al.Journal of Human Genetics|December 15, 2010
Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failureAkira Nishimura-Tadaki, Takahito Wada, Gul Bano, 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 C, Seminars in Medical Genetics|March 18, 2017
The Ehlers-Danlos syndromes, rare typesAngela F Brady, Serwet Demirdas, Sylvie Fournel-Gigleux, et al.Molecular Cell|November 18, 2017
NOTCH2 Hajdu-Cheney Mutations Escape SCFFBW7-Dependent Proteolysis to Promote OsteoporosisHidefumi Fukushima, Kouhei Shimizu, Asami Watahiki, et al.Frontiers in Genetics|April 11, 2024
Functional analysis of RRAS2 pathogenic variants with a Noonan-like phenotypeTakaya Iida, Arisa Igarashi, Kae Fukunaga, et al.American Journal of Medical Genetics. Part A|February 25, 2020
Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndromeSandy Ayoub, Neeti Ghali, Chloe Angwin, et al.American Journal of Medical Genetics. Part A|May 27, 2010
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestationsTomoki Kosho, Noriko Miyake, Atsushi Hatamochi, et al.Journal of Human Genetics|July 15, 2020
Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: a nation-wide survey of clinical genetics professionals in JapanMio Tsuchiya, Takahiro Yamada, Rina Akaishi, et al.Pageof 17