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Hormone Research in Paediatrics|September 26, 2015
Functional Characterization of c.870+3_6delGAGT Splice Site Mutation in NR5A1Masaki Takagi, Noriko Nishina, Hiroko Yagi, et al.
Human Genome Variation|April 16, 2016
Osteogenesis imperfecta IIC caused by a novel heterozygous mutation in the C-propeptide region of COL1A1Masaki Takagi, Mitsuru Matsushita, Gen Nishimura, et al.
Human Genome Variation|April 28, 2017
Syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of <i>ATRX</i>Masaki Takagi, Hiroko Yagi, Ryuji Fukuzawa, et al.
Endocrine Journal|December 28, 2016
Hypertension is a characteristic complication of X-linked hypophosphatemiaYoshie Nakamura, Masaki Takagi, Ryojun Takeda, et al.
Pediatric Radiology|April 4, 2015
Sclerosteosis (craniotubular hyperostosis-syndactyly) with complex hyperphalangy of the index fingerHiroko Yagi, Masaki Takagi, Yukihiro Hasegawa, et al.
Human Genome Variation|April 16, 2016
A novel KAL1 mutation is associated with combined pituitary hormone deficiencyMasaki Takagi, Satoshi Narumi, Riku Hamada, et al.
Journal of Human Genetics|September 20, 2018
A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invaginationMasaki Takagi, Satoshi Shimomura, Ryuji Fukuzawa, et al.
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