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Japanese Journal of Ophthalmology|April 19, 2018
Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutationsKentaro Kurata, Katsuhiro Hosono, Akiko Hikoya, et al.Plos One|October 15, 2008
Distribution and effects of nonsense polymorphisms in human genesYumi Yamaguchi-Kabata, Makoto K Shimada, Yosuke Hayakawa, et al.Molecular Biology Reports|July 5, 2003
Identification of novel tropomyosin 1 genes of pufferfish (Fugu rubripes) on genomic sequences and tissue distribution of their transcriptsDaisuke Ikeda, Takuya Toramoto, Yoshihiro Ochiai, et al.Journal of Human Genetics|May 20, 2011
Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populationsHiroshi Nakanishi, Masafumi Ohtsubo, Satoshi Iwasaki, et al.Human Genome Variation|April 18, 2019
A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel <i>CDHR1</i> frameshift and known missense variantsMuhammad Nazmul Haque, Kentaro Kurata, Katsuhiro Hosono, et al.BMC Cancer|July 23, 2009
Establishment and characterization of pleomorphic adenoma cell systems: an in-vitro demonstration of carcinomas arising secondarily from adenomas in the salivary glandSatoshi Maruyama, Jun Cheng, Susumu Shingaki, et al.Ophthalmic Genetics|March 26, 2008
Novel RDH5 mutation in family with mother having fundus albipunctatus and three children with retinitis pigmentosaChunxia Wang, Nobuo Nakanishi, Kentaro Ohishi, et al.Biochemical and Biophysical Research Communications|June 15, 2004
Initial characterization of an uromodulin-like 1 gene on human chromosome 21q22.3Kazunori Shibuya, Kentaro Nagamine, Michiyo Okui, et al.Biochemical and Biophysical Research Communications|August 29, 2003
A novel giant gene CSMD3 encoding a protein with CUB and sushi multiple domains: a candidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1Atsushi Shimizu, Shuichi Asakawa, Takashi Sasaki, et al.Journal of Human Genetics|September 17, 2010
Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1Hiroshi Nakanishi, Masafumi Ohtsubo, Satoshi Iwasaki, et al.Pageof 6