Works by Murakami, Hiroaki

Results: 58
    1
    2
    3
    4
    5
    6
    7
    8
    9

    Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.

    Published in:
    Clinical Genetics, 2022, v. 101, n. 3, p. 335, doi. 10.1111/cge.14103
    By:
    • Enomoto, Yumi;
    • Yokoi, Takayuki;
    • Tsurusaki, Yoshinori;
    • Murakami, Hiroaki;
    • Tominaga, Makiko;
    • Minatogawa, Mari;
    • Abe‐Hatano, Chihiro;
    • Kuroda, Yukiko;
    • Ohashi, Ikuko;
    • Ida, Kazumi;
    • Shiiya, Shizuka;
    • Kumaki, Tatsuro;
    • Naruto, Takuya;
    • Mitsui, Jun;
    • Harada, Noriaki;
    • Kido, Yasuhiro;
    • Kurosawa, Kenji
    Publication type:
    Article
    10
    11
    12
    13
    14
    15
    16

    Correction: Environmental DNA as a 'Snapshot' of Fish Distribution: A Case Study of Japanese Jack Mackerel in Maizuru Bay, Sea of Japan.

    Published in:
    2016
    By:
    • Yamamoto, Satoshi;
    • Minami, Kenji;
    • Fukaya, Keiichi;
    • Takahashi, Kohji;
    • Sawada, Hideki;
    • Murakami, Hiroaki;
    • Tsuji, Satsuki;
    • Hashizume, Hiroki;
    • Kubonaga, Shou;
    • Horiuchi, Tomoya;
    • Hongo, Masamichi;
    • Nishida, Jo;
    • Okugawa, Yuta;
    • Fujiwara, Ayaka;
    • Fukuda, Miho;
    • Hidaka, Shunsuke;
    • Suzuki, Keita W.;
    • Miya, Masaki;
    • Araki, Hitoshi;
    • Yamanaka, Hiroki
    Publication type:
    Correction Notice
    17

    Environmental DNA as a ‘Snapshot’ of Fish Distribution: A Case Study of Japanese Jack Mackerel in Maizuru Bay, Sea of Japan.

    Published in:
    PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0149786
    By:
    • Yamamoto, Satoshi;
    • Minami, Kenji;
    • Fukaya, Keiichi;
    • Takahashi, Kohji;
    • Sawada, Hideki;
    • Murakami, Hiroaki;
    • Tsuji, Satsuki;
    • Hashizume, Hiroki;
    • Kubonaga, Shou;
    • Horiuchi, Tomoya;
    • Hongo, Masamichi;
    • Nishida, Jo;
    • Okugawa, Yuta;
    • Fujiwara, Ayaka;
    • Fukuda, Miho;
    • Hidaka, Shunsuke;
    • Suzuki, Keita W.;
    • Miya, Masaki;
    • Araki, Hitoshi;
    • Yamanaka, Hiroki
    Publication type:
    Article
    18
    19
    20
    21
    22
    23
    24
    25
    26
    27
    28
    29
    30
    31
    32
    33
    34
    35
    36
    37
    38

    Discordant phenotype caused by CASK mutation in siblings with NF1.

    Published in:
    Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0051-0
    By:
    • Murakami, Hiroaki;
    • Kimura, Yuichi;
    • Enomoto, Yumi;
    • Tsurusaki, Yoshinori;
    • Akahira-Azuma, Moe;
    • Kuroda, Yukiko;
    • Tsuji, Megumi;
    • Goto, Tomohide;
    • Kurosawa, Kenji
    Publication type:
    Article
    39
    40
    41
    42
    43
    44

    Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2333, doi. 10.1002/ajmg.a.61793
    By:
    • Murakami, Hiroaki;
    • Tsurusaki, Yoshinori;
    • Enomoto, Keisuke;
    • Kuroda, Yukiko;
    • Yokoi, Takayuki;
    • Furuya, Noritaka;
    • Yoshihashi, Hiroshi;
    • Minatogawa, Mari;
    • Abe‐Hatano, Chihiro;
    • Ohashi, Ikuko;
    • Nishimura, Naoto;
    • Kumaki, Tatsuro;
    • Enomoto, Yumi;
    • Naruto, Takuya;
    • Iwasaki, Fuminori;
    • Harada, Noriaki;
    • Ishikawa, Aki;
    • Kawame, Hiroshi;
    • Sameshima, Kiyoko;
    • Yamaguchi, Yu
    Publication type:
    Article
    45
    46

    Origin of the in-orbit instrumental background of the Hard X-ray Imager onboard Hitomi.

    Published in:
    Journal of Astronomical Telescopes, Instruments & Systems, 2020, v. 6, n. 4, p. 46003, doi. 10.1117/1.JATIS.6.4.046003
    By:
    • Hagino, Kouichi;
    • Odaka, Hirokazu;
    • Sato, Goro;
    • Sato, Tamotsu;
    • Suzuki, Hiromasa;
    • Mizuno, Tsunefumi;
    • Kawaharada, Madoka;
    • Ohno, Masanori;
    • Nakazawa, Kazuhiro;
    • Kobayashi, Shogo B.;
    • Murakami, Hiroaki;
    • Miyake, Katsuma;
    • Asai, Makoto;
    • Koi, Tatsumi;
    • Madejski, Greg;
    • Saito, Shinya;
    • Wright, Dennis H.;
    • Enoto, Teruaki;
    • Fukazawa, Yasushi;
    • Hayashi, Katsuhiro
    Publication type:
    Article
    47

    In-orbit performance and calibration of the Hard X-ray Imager onboard Hitomi (ASTRO-H).

    Published in:
    Journal of Astronomical Telescopes, Instruments & Systems, 2018, v. 4, n. 2, p. 1, doi. 10.1117/1.JATIS.4.2.021409
    By:
    • Kouichi Hagino;
    • Kazuhiro Nakazawa;
    • Goro Sato;
    • Motohide Kokubun;
    • Teruaki Enoto;
    • Yasushi Fukazawa;
    • Katsuhiro Hayashi;
    • Jun Kataoka;
    • Junichiro Katsuta;
    • Shogo B. Kobayashi;
    • Laurent, Philippe;
    • Lebrun, Francois;
    • Limousin, Olivier;
    • Maier, Daniel;
    • Kazuo Makishima;
    • Taketo Mimura;
    • Katsuma Miyake;
    • Tsunefumi Mizuno;
    • Kunishiro Mori;
    • Hiroaki Murakami
    Publication type:
    Article
    48

    Rothmund-Thomson syndrome investigated by two nationwide surveys in Japan.

    Published in:
    Pediatrics International, 2022, v. 64, n. 1, p. 1, doi. 10.1111/ped.15120
    By:
    • Hideo Kaneko;
    • Minoru Takemoto;
    • Hiroaki Murakami;
    • Kenji Ihara;
    • Rika Kosaki;
    • Sei-ichiro Motegi;
    • Akira Taniguchi;
    • Muneaki Matsuo;
    • Naoya Yamazaki;
    • Chikako Nishigori;
    • Junko Takita;
    • Masaya Koshizaka;
    • Yoshiro Maezawa;
    • Koutaro Yokote
    Publication type:
    Article
    49
    50