Works matching AU Hiroki Kurahashi

Results: 134
    1

    Clinical application of long‐read nanopore sequencing in a preimplantation genetic testing pre‐clinical workup to identify the junction for complex Xq chromosome rearrangement‐related disease.

    Published in:
    Prenatal Diagnosis, 2023, v. 43, n. 3, p. 304, doi. 10.1002/pd.6334
    By:
    • Mariya, Tasuku;
    • Shichiri, Yui;
    • Sugimoto, Takeshi;
    • Kawamura, Rie;
    • Miyai, Syunsuke;
    • Inagaki, Hidehito;
    • Sugihara, Eiji;
    • Ikeda, Keiko;
    • Baba, Tsuyoshi;
    • Ishikawa, Aki;
    • Ammae, Michiko;
    • Nakaoka, Yoshiharu;
    • Saito, Tsuyoshi;
    • Sakurai, Akihiro;
    • Kurahashi, Hiroki
    Publication type:
    Article
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    Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy.

    Published in:
    Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-29891-9
    By:
    • Katagiri, Satoshi;
    • Iwasa, Maki;
    • Hayashi, Takaaki;
    • Hosono, Katsuhiro;
    • Yamashita, Takahiro;
    • Kuniyoshi, Kazuki;
    • Ueno, Shinji;
    • Kondo, Mineo;
    • Ueyama, Hisao;
    • Ogita, Hisakazu;
    • Shichida, Yoshinori;
    • Inagaki, Hidehito;
    • Kurahashi, Hiroki;
    • Kondo, Hiroyuki;
    • Ohji, Masahito;
    • Hotta, Yoshihiro;
    • Nakano, Tadashi
    Publication type:
    Article
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    Paternal origin of the de novo constitutional t(11;22)(q23;q11).

    Published in:
    European Journal of Human Genetics, 2010, v. 18, n. 7, p. 783, doi. 10.1038/ejhg.2010.20
    By:
    • Ohye, Tamae;
    • Inagaki, Hidehito;
    • Kogo, Hiroshi;
    • Tsutsumi, Makiko;
    • Kato, Takema;
    • Tong, Maoqing;
    • Macville, Merryn V. E.;
    • Medne, Livija;
    • Zackai, Elaine H.;
    • Emanuel, Beverly S.;
    • Kurahashi, Hiroki
    Publication type:
    Article
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    Successful living donor liver transplantation for classical maple syrup urine disease.

    Published in:
    Pediatric Transplantation, 2016, v. 20, n. 5, p. 707, doi. 10.1111/petr.12738
    By:
    • Yasui, Toshihiro;
    • Suzuki, Tatsuya;
    • Hara, Fujio;
    • Watanabe, Shunsuke;
    • Uga, Naoko;
    • Naoe, Atsuki;
    • Yoshikawa, Tetsushi;
    • Ito, Tetsuya;
    • Nakajima, Yoko;
    • Miura, Hiroki;
    • Sugioka, Atsushi;
    • Kato, Yutaro;
    • Tokoro, Takamasa;
    • Tanahashi, Yoshinao;
    • Kasahara, Mureo;
    • Fukuda, Akinari;
    • Kurahashi, Hiroki
    Publication type:
    Article
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    Age-Related Decrease of Meiotic Cohesins in Human Oocytes.

    Published in:
    PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0096710
    By:
    • Tsutsumi, Makiko;
    • Fujiwara, Reiko;
    • Nishizawa, Haruki;
    • Ito, Mayuko;
    • Kogo, Hiroshi;
    • Inagaki, Hidehito;
    • Ohye, Tamae;
    • Kato, Takema;
    • Fujii, Takuma;
    • Kurahashi, Hiroki
    Publication type:
    Article
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    Preimplantation genetic testing for aneuploidy: a comparison of live birth rates in patients with recurrent pregnancy loss due to embryonic aneuploidy or recurrent implantation failure.

    Published in:
    2020
    By:
    • Sato, Takeshi;
    • Sugiura-Ogasawara, Mayumi;
    • Ozawa, Fumiko;
    • Yamamoto, Toshiyuki;
    • Kato, Takema;
    • Kurahashi, Hiroki;
    • Kuroda, Tomoko;
    • Aoyama, Naoki;
    • Kato, Keiichi;
    • Kobayashi, Ryota;
    • Fukuda, Aisaku;
    • Utsunomiya, Takafumi;
    • Kuwahara, Akira;
    • Saito, Hidekazu;
    • Takeshita, Toshiyuki;
    • Irahara, Minoru
    Publication type:
    journal article
    28

    Preimplantation genetic testing for aneuploidy: a comparison of live birth rates in patients with recurrent pregnancy loss due to embryonic aneuploidy or recurrent implantation failure.

    Published in:
    2019
    By:
    • Sato, Takeshi;
    • Sugiura-Ogasawara, Mayumi;
    • Ozawa, Fumiko;
    • Yamamoto, Toshiyuki;
    • Kato, Takema;
    • Kurahashi, Hiroki;
    • Kuroda, Tomoko;
    • Aoyama, Naoki;
    • Kato, Keiichi;
    • Kobayashi, Ryota;
    • Fukuda, Aisaku;
    • Utsunomiya, Takafumi;
    • Kuwahara, Akira;
    • Saito, Hidekazu;
    • Takeshita, Toshiyuki;
    • Irahara, Minoru
    Publication type:
    journal article
    29

    Usefulness of combined NGS and QF‐PCR analysis for product of conception karyotyping.

    Published in:
    Reproductive Medicine & Biology, 2022, v. 21, n. 1, p. 1, doi. 10.1002/rmb2.12449
    By:
    • Kato, Takema;
    • Miyai, Shunsuke;
    • Suzuki, Hideki;
    • Murase, Yuuri;
    • Ota, Shiyo;
    • Yamauchi, Hiroko;
    • Ammae, Michiko;
    • Nakano, Tatsuya;
    • Nakaoka, Yoshiharu;
    • Inoue, Tomoko;
    • Morimoto, Yoshiharu;
    • Fukuda, Aisaku;
    • Utsunomiya, Takafumi;
    • Nishizawa, Haruki;
    • Kurahashi, Hiroki
    Publication type:
    Article
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    Mixed gonadal dysgenesis with gonadoblastoma diagnosed by prophylactic laparoscopic gonadectomy: A case report.

    Published in:
    Experimental & Therapeutic Medicine, 2024, v. 28, n. 3, p. 1, doi. 10.3892/etm.2024.12647
    By:
    • TAKUTO UYAMA;
    • IEMASA KOH;
    • TOMOKI KOMOSHITA;
    • AYAKO MATSUSHIMA;
    • RYO OHARA;
    • ARISA NOMURA;
    • YUKA ENOKIZONO;
    • YUKI SATO;
    • KOSUKE NAKAMOTO;
    • HIROHIKO MORIOKA;
    • YURIKO OOMORI;
    • YUKO TERAOKA;
    • SUGURU NOSAKA;
    • KATSUYUKI TOMONO;
    • MASAKI SEKINE;
    • TOMOMI YAMAZAKI;
    • YURIKA MUKAI;
    • KOUJI BANNO;
    • HIROKI KURAHASHI;
    • YOSHIKI KUDO
    Publication type:
    Article
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    Mutation analysis of a Japanese patient with fucosidosis.

    Published in:
    Journal of Human Genetics, 1999, v. 44, n. 5, p. 323, doi. 10.1007/s100380050169
    By:
    • Akagi, Motohiro;
    • Inui, K.;
    • Nishigaki, Toshinori;
    • Muramatsu, Takashi;
    • Kokubu, Chikara;
    • Fu, L.;
    • Fukushima, Hisao;
    • Yanagihara, Itaru;
    • Tsukamoto, Hiroko;
    • Kurahashi, Hiroki;
    • Okada, Shintaro
    Publication type:
    Article
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    Novel polymorphisms in the βig-h3 gene.

    Published in:
    Journal of Human Genetics, 1998, v. 43, n. 3, p. 214, doi. 10.1007/s100380050075
    By:
    • Tsujikawa, M.;
    • Shimomura, Yoshikazu;
    • Okada, Masaki;
    • Yamamoto, Syuji;
    • Tano, Yasuo;
    • Kurahashi, Hiroki
    Publication type:
    Article
    43

    A Family with Craniofrontonasal Syndrome.

    Published in:
    Cleft Palate Craniofacial Journal, 2018, v. 55, n. 7, p. 1026, doi. 10.1597/15-347
    By:
    • Inoue, Yoshikazu;
    • Sakamoto, Yoshiaki;
    • Sugimoto, Masanori;
    • Inagaki, Hidehito;
    • Boda, Hiroko;
    • Miyata, Masafumi;
    • Kato, Hideteru;
    • Kurahashi, Hiroki;
    • Okumoto, Takayuki
    Publication type:
    Article
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    A Novel PIGN Mutation and Prenatal Diagnosis of Inherited Glycosylphosphatidylinositol Deficiency.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 183, doi. 10.1002/ajmg.a.37397
    By:
    • Nakagawa, Taku;
    • Taniguchi‐Ikeda, Mariko;
    • Murakami, Yoshiko;
    • Nakamura, Shota;
    • Motooka, Daisuke;
    • Emoto, Tomomi;
    • Satake, Wataru;
    • Nishiyama, Masahiro;
    • Toyoshima, Daisaku;
    • Morisada, Naoya;
    • Takada, Satoshi;
    • Tairaku, Shinya;
    • Okamoto, Nobuhiko;
    • Morioka, Ichiro;
    • Kurahashi, Hiroki;
    • Toda, Tatsushi;
    • Kinoshita, Taroh;
    • Iijima, Kazumoto
    Publication type:
    Article
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    Molecular and Virological Evidence of Viral Activation From Chromosomally Integrated Human Herpesvirus 6A in a Patient With X-Linked Severe Combined Immunodeficiency.

    Published in:
    Clinical Infectious Diseases, 2014, v. 59, n. 4, p. 545, doi. 10.1093/cid/ciu323
    By:
    • Endo, Akifumi;
    • Watanabe, Ken;
    • Ohye, Tamae;
    • Suzuki, Kyoko;
    • Matsubara, Tomoyo;
    • Shimizu, Norio;
    • Kurahashi, Hiroki;
    • Yoshikawa, Tetsushi;
    • Katano, Harutaka;
    • Inoue, Naoki;
    • Imai, Kohsuke;
    • Takagi, Masatoshi;
    • Morio, Tomohiro;
    • Mizutani, Shuki
    Publication type:
    Article