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Author Mishima, Hiroyuki: 12    link image

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2019-01-28 A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency Dateki, Sumito; Watanabe, Satoshi; Mishima, Hiroyuki; Shirakawa, Toshihiko; Morikawa, Minoru; Kinoshita, Eiichi; Yoshiura, Koh-ichiro; Moriuchi, Hiroyuki 70
2019-11 A Mutation in PDGFRB in a Family with Infantile Myofibromatosis Ito, Nobuhiro; Watanabe, Satoshi; Mishima, Hiroyuki; Kinoshita, Akira; Okada, Masahiko; Moriuchi, Hiroyuki; Yoshiura, Koh-ichiro 58
2011-09-08 Agile parallel bioinformatics workflow management using Pwrake. Mishima, Hiroyuki; Sasaki, Kensaku; Tanaka, Masahiro; Tatebe, Osamu; Yoshiura, Koh-Ichiro 608
2008-05-28 Application of the Linux cluster for exhaustive window haplotype analysis using the FBAT and Unphased programs Mishima, Hiroyuki; Lidral, Andrew C.; Ni, Jun 1136
2019-02-22 Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome Shimizu, Hitomi; Watanabe, Satoshi; Kinoshita, Akira; Mishima, Hiroyuki; Nishimura, Gen; Moriuchi, Hiroyuki; Yoshiura, Koh-ichiro; Dateki, Sumito 87
2011-05-31 Identification of novel schizophrenia loci by homozygosity mapping using DNA microarray analysis. Kurotaki, Naohiro; Tasaki, Shinya; Mishima, Hiroyuki; Ono, Shinji; Imamura, Akira; Kikuchi, Taeko; Nishida, Nao; Tokunaga, Katsushi; Yoshiura, Koh-ichiro; Ozawa, Hiroki 757
2019-12-13 KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup) Hamaguchi, Yo; Aoki, Mikihiro; Watanabe, Satoshi; Mishima, Hiroyuki; Yoshiura, Koh-ichiro; Moriuchi, Hiroyuki; Dateki, Sumito 63
2015-12 Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders Yamamoto, Takuma; Mishima, Hiroyuki; Mizukami, Hajime; Fukahori, Yuki; Umehara, Takahiro; Murase, Takehiko; Kobayashi, Masamune; Mori, Shinjiro; Nagai, Tomonori; Fukunaga, Tatsushige; Yamaguchi, Seiji; Yoshiura, Koh-ichiro; Ikematsu, Kazuya 649
2012-05 Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair Nakazawa, Yuka; Sasaki, Kensaku; Mitsutake, Norisato; Matsuse, Michiko; Shimada, Mayuko; Nardo, Tiziana; Takahashi, Yoshito; Ohyama, Kaname; Ito, Kosei; Mishima, Hiroyuki; Nomura, Masayo; Kinoshita, Akira; Ono, Shinji; Takenaka, Katsuya; Masuyama, Ritsuko; Kudo, Takashi; Slor, Hanoch; Utani, Atsushi; Tateishi, Satoshi; Yamashita, Shunichi; Stefanini, Miria; Lehmann, Alan R; Yoshiura, Koh-ichiro; Ogi, Tomoo 1667
2019-04-19 Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities Morimoto, Yoshiro; Yoshida, Shintaro; Kinoshita, Akira; Satoh, Chisei; Mishima, Hiroyuki; Yamaguchi, Naohiro; Matsuda, Katsuya; Sakaguchi, Miako; Tanaka, Takeshi; Komohara, Yoshihiro; Imamura, Akira; Ozawa, Hiroki; Nakashima, Masahiro; Kurotaki, Naohiro; Kishino, Tatsuya; Yoshiura, Koh-ichiro; Ono, Shinji 155
2012-09-21 The Ruby UCSC API: accessing the UCSC genome database using Ruby Mishima, Hiroyuki; Aerts, Jan; Katayama, Toshiaki; Bonnal, Raoul J P; Yoshiura, Koh-ichiro 632
2013-01-10 Uniparental disomy analysis in trios using genome-wide SNP array and whole-genome sequencing data imply segmental uniparental isodisomy in general populations Sasaki, Kensaku; Mishima, Hiroyuki; Miura, Kiyonori; Yoshiura, Koh-ichiro 1822

 

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