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Journal of Community Genetics|September 16, 2023
When and how to enlighten citizens on genetics and hereditary cancer: a web survey of online video viewersReimi Sogawa, Takahito Wada, Noriyuki Yamashita, et al.Clinical Dysmorphology|December 1, 2007
De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairmentTomoki Kosho, Satoru Sakazume, Hiroshi Kawame, et al.American Journal of Medical Genetics. Part A|October 16, 2007
Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changesTomoki Kosho, Jun Takahashi, Takashige Momose, et al.Journal of Neurology|August 2, 2008
Downbeat positioning nystagmus is a common clinical feature despite variable phenotypes in an FHM1 familyIchiro Yabe, Mayumi Kitagawa, Yashio Suzuki, et al.Journal of Human Genetics|December 21, 2019
Association of ALPL variants with serum alkaline phosphatase and bone traits in the general Japanese population: The Nagahama StudyMiho Nagata, Kazuya Setoh, Meiko Takahashi, et al.Human Genome Variation|January 27, 2021
Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variantsTakenori Tozawa, Akira Nishimura, Tamaki Ueno, et al.Nephron|July 28, 2025
A case of siblings with end-stage kidney disease and retinal degeneration suggestive of partial Alström syndromeKanna Shinkawa, Akira Ishii, Taikou Kimura, et al.Brain & Development|March 14, 2012
Two Japanese patients with Leigh syndrome caused by novel SURF1 mutationsJunpei Tanigawa, Kaori Kaneko, Masakazu Honda, et al.Human Mutation|April 15, 2008
Mutations in the chromatin-associated protein ATRXRichard J Gibbons, Takahito Wada, Christopher A Fisher, et al.Congenital Anomalies|January 4, 2022
Analysis of triptan use during pregnancy in Japan: A case seriesYuko Yamaguchi, Takahiro Yamada, Mikako Goto, et al.Pageof 8