يعرض 1 - 20 نتائج من 185 نتيجة بحث عن '"Hiroki Ura"', وقت الاستعلام: 0.57s تنقيح النتائج
  1. 1
    Academic Journal
    Case report: Atopic dermatitis-like skin manifestations in hypohidrotic ectodermal dysplasia caused by a novel splice site mutation of the EDA gene successfully treated with dupilumab

    المؤلفون: Eri Uchiyama, Kiminobu Takeda, Hiroto Ono, Akira Shimizu, Sumihito Togi, Hiroki Ura, Yo Niida

    المصدر: Journal of Cutaneous Immunology and Allergy, Vol 8 (2025)

    مصطلحات موضوعية: hypohidrotic ectodermal dysplasia (HED), EDA gene, atopic dermatitis, dupilumab, genetic analysis, Dermatology, RL1-803, Immunologic diseases. Allergy, RC581-607

    وصف الملف: electronic resource

    Relation: https://www.frontierspartnerships.org/articles/10.3389/jcia.2025.13813/full; https://doaj.org/toc/2574-4593

    URL الوصول: https://doaj.org/article/27a83e216b8947fbbfa4c946bc914a48

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  2. 2
    Academic Journal
    Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency

    المؤلفون: Yo Niida, Wataru Fujita, Sumihito Togi, Hiroki Ura

    المصدر: Human Genome Variation, Vol 11, Iss 1, Pp 1-4 (2024)

    مصطلحات موضوعية: Genetics, QH426-470, Life, QH501-531

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/2054-345X

    URL الوصول: https://doaj.org/article/83c83de095d54daea45e2d44db4e48bd

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  3. 3
    Academic Journal
    Establishment of a human induced pluripotent stem cell line, KMUGMCi010-A, from a patient with X-linked Ohdo syndrome bearing missense mutation in the MED12 gene

    المؤلفون: Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida

    المصدر: Stem Cell Research, Vol 77, Iss , Pp 103388- (2024)

    مصطلحات موضوعية: Biology (General), QH301-705.5

    وصف الملف: electronic resource

    Relation: http://www.sciencedirect.com/science/article/pii/S1873506124000862; https://doaj.org/toc/1873-5061

    URL الوصول: https://doaj.org/article/ea5c0e8f9f1d419aacaedaa73abcc640

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  4. 4
    Academic Journal
    Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy

    المؤلفون: Yo Niida, Azusa Kobayashi, Sumihito Togi, Hiroki Ura

    المصدر: Human Genome Variation, Vol 10, Iss 1, Pp 1-4 (2023)

    مصطلحات موضوعية: Genetics, QH426-470, Life, QH501-531

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/2054-345X

    URL الوصول: https://doaj.org/article/c93fc35efc6d458096f1945ed6e1da83

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  5. 5
    Academic Journal
    An optimized cocktail of small molecule inhibitors promotes the maturation of dendritic cells in GM-CSF mouse bone marrow culture

    المؤلفون: Shintaro Matsuba, Hiroki Ura, Fumiji Saito, Chie Ogasawara, Shigetaka Shimodaira, Yo Niida, Nobuyuki Onai

    المصدر: Frontiers in Immunology, Vol 14 (2023)

    مصطلحات موضوعية: dendritic cells, small molecule inhibitor, cytokine production, mixed lymphoid reaction, immunotherapy, Immunologic diseases. Allergy, RC581-607

    وصف الملف: electronic resource

    Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2023.1264609/full; https://doaj.org/toc/1664-3224

    URL الوصول: https://doaj.org/article/75d05acbf4464351ad3f4b5073b9296a

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  6. 6
    Academic Journal
    Target-capture full-length double-stranded cDNA long-read sequencing through Nanopore revealed novel intron retention in patient with tuberous sclerosis complex

    المؤلفون: Hiroki Ura, Sumihito Togi, Yo Niida

    المصدر: Frontiers in Genetics, Vol 14 (2023)

    مصطلحات موضوعية: RNA sequencing, next-generation sequencing, long-read sequencing, alternative splicing analysis, tuberous sclerosis complex, Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1256064/full; https://doaj.org/toc/1664-8021

    URL الوصول: https://doaj.org/article/47a35d9f3df74a6e84f2446463bd4eff

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  7. 7
    Academic Journal
    Establishment of human induced pluripotent stem cell lines, KMUGMCi006, from a patient with Tuberous sclerosis complex (TSC) bearing mosaic nonsense mutations in the Tuberous sclerosis complex 2 (TSC2) gene

    المؤلفون: Hiroki Ura, Sumihito Togi, Mamoru Ozaki, Hisayo Hatanaka, Yo Niida

    المصدر: Stem Cell Research, Vol 70, Iss , Pp 103129- (2023)

    مصطلحات موضوعية: Biology (General), QH301-705.5

    وصف الملف: electronic resource

    Relation: http://www.sciencedirect.com/science/article/pii/S1873506123001150; https://doaj.org/toc/1873-5061

    URL الوصول: https://doaj.org/article/c17916ad38b74f9e98607bd49711852e

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  8. 8
    Academic Journal
    Establishment of a human induced pluripotent stem cell line, KMUGMCi007-A, from a patient with prolidase deficiency (PD) bearing homozygous in-frame mutation in the PEPD gene

    المؤلفون: Hiroki Ura, Sumihito Togi, Mamoru Ozaki, Hisayo Hatanaka, Yo Niida

    المصدر: Stem Cell Research, Vol 69, Iss , Pp 103075- (2023)

    مصطلحات موضوعية: Biology (General), QH301-705.5

    وصف الملف: electronic resource

    Relation: http://www.sciencedirect.com/science/article/pii/S1873506123000612; https://doaj.org/toc/1873-5061

    URL الوصول: https://doaj.org/article/a5ae7fe31e114c1c8018603ff0caff8d

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  9. 9
    Academic Journal
    Poly(A) capture full length cDNA sequencing improves the accuracy and detection ability of transcript quantification and alternative splicing events

    المؤلفون: Hiroki Ura, Sumihito Togi, Yo Niida

    المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-10 (2022)

    مصطلحات موضوعية: Medicine, Science

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/2045-2322

    URL الوصول: https://doaj.org/article/afbebcc1ab8d4544a109619a7c85ebdc

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  10. 10
    Academic Journal
    A comparison of mRNA sequencing (RNA-Seq) library preparation methods for transcriptome analysis

    المؤلفون: Hiroki Ura, Sumihito Togi, Yo Niida

    المصدر: BMC Genomics, Vol 23, Iss 1, Pp 1-10 (2022)

    مصطلحات موضوعية: Transcriptome, RNA-Seq, Gene expression, Alternative splicing, Biotechnology, TP248.13-248.65, Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/1471-2164

    URL الوصول: https://doaj.org/article/ad1e5b71b7984e378ded64f272f4156c

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  11. 11
    Academic Journal
    Voluntary Running Restores Age-related Loss of Neural Repair Abilities and Circadian Rhythms after Brain Injury / 脳損傷における自発的・継続的な運動は加齢で低下する概日リズムと神経修復力を高める

    المؤلفون: Hiroki Ura, Hotaru Koki, Kyohei Mitsugi, Masaki Ueno, Nene Yanagita, Takashi Tanaka, Takuya Maeda, 三次 恭平, 上野 将紀, 前田 拓哉, 古木 ほたる, 柳田 寧々, 浦 大樹, 田中 貴士

    المصدر: 基礎理学療法学 / Journal of Physical Therapy Fundamentals. 2023, 26(1):11

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  12. 12
    Academic Journal
    Establishment of a human induced pluripotent stem cell line, KMUGMCi003-A, from a patient with trichothiodystrophy 1 (TTD1) bearing compound heterozygous missense mutations in the ERCC2 gene

    المؤلفون: Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida

    المصدر: Stem Cell Research, Vol 64, Iss , Pp 102885- (2022)

    مصطلحات موضوعية: Biology (General), QH301-705.5

    وصف الملف: electronic resource

    Relation: http://www.sciencedirect.com/science/article/pii/S1873506122002343; https://doaj.org/toc/1873-5061

    URL الوصول: https://doaj.org/article/033c093639614bbdb3e4d51a46343fc2

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  13. 13
    Academic Journal
    Establishment of a human induced pluripotent stem cell line, KMUGMCi005-A, from a patient with Epidermodysplasia verruciformis (EV) bearing homozygous splicing donor site mutation in the TMC8 gene

    المؤلفون: Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida

    المصدر: Stem Cell Research, Vol 64, Iss , Pp 102926- (2022)

    مصطلحات موضوعية: Biology (General), QH301-705.5

    وصف الملف: electronic resource

    Relation: http://www.sciencedirect.com/science/article/pii/S1873506122002756; https://doaj.org/toc/1873-5061

    URL الوصول: https://doaj.org/article/f303ce2c716a42fa93f5aee73910259a

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  14. 14
    Academic Journal
    Application of Combined Long Amplicon Sequencing (CoLAS) for Genetic Analysis of Neurofibromatosis Type 1: A Pilot Study

    المؤلفون: Sumihito Togi, Hiroki Ura, Yo Niida

    المصدر: Current Issues in Molecular Biology, Vol 43, Iss 2, Pp 782-801 (2021)

    مصطلحات موضوعية: neurofibromatosis type 1, genetic testing, next-generation sequencing, long-range PCR, multiplex PCR, Biology (General), QH301-705.5

    وصف الملف: electronic resource

    Relation: https://www.mdpi.com/1467-3045/43/2/57; https://doaj.org/toc/1467-3037; https://doaj.org/toc/1467-3045

    URL الوصول: https://doaj.org/article/136bb1f5d55a4a2993e40bb9c14b8f2b

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  15. 15
    Academic Journal
    Establishment of a human induced pluripotent stem cell line, KMUGMCi004-A, from a patient bearing a heterozygous c.1832delG mutation in the APC gene leading familial adenomatous polyposis (FAP)

    المؤلفون: Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida

    المصدر: Stem Cell Research, Vol 63, Iss , Pp 102867- (2022)

    مصطلحات موضوعية: Biology (General), QH301-705.5

    وصف الملف: electronic resource

    Relation: http://www.sciencedirect.com/science/article/pii/S1873506122002161; https://doaj.org/toc/1873-5061

    URL الوصول: https://doaj.org/article/e25c28f5340140d096b2d05311f52af8

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  16. 16
    Academic Journal
    Establishment of a human induced pluripotent stem cell line, KMUGMCi002-A, from a patient bearing a heterozygous c.6362_6364del mutation in the NIPBL gene leading Cornelia de Lange syndrome (CdLS)

    المؤلفون: Hiroki Ura, Sumihito Togi, Yumiko Iwata, Mamoru Ozaki, Yo Niida

    المصدر: Stem Cell Research, Vol 63, Iss , Pp 102860- (2022)

    مصطلحات موضوعية: Biology (General), QH301-705.5

    وصف الملف: electronic resource

    Relation: http://www.sciencedirect.com/science/article/pii/S1873506122002094; https://doaj.org/toc/1873-5061

    URL الوصول: https://doaj.org/article/974bd9312fac41ecbc078a65e3d19fc4

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  17. 17
    Academic Journal
    Establishment of a human induced pluripotent stem cell line, KMUGMCi001-A, from a patient bearing a heterozygous c.772 + 3_772 + 4dup mutation in the ACVRL1 gene leading Telangiectasia, hereditary hemorrhagic, type 2 (HHT2)

    المؤلفون: Hiroki Ura, Sumihito Togi, Yumiko Iwata, Mamoru Ozaki, Yo Niida

    المصدر: Stem Cell Research, Vol 61, Iss , Pp 102743- (2022)

    مصطلحات موضوعية: Biology (General), QH301-705.5

    وصف الملف: electronic resource

    Relation: http://www.sciencedirect.com/science/article/pii/S1873506122000927; https://doaj.org/toc/1873-5061

    URL الوصول: https://doaj.org/article/871f58f9627d465e962839bbbff104ae

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  18. 18
    Academic Journal
    Sound Source Measurement / 音源計測

    المؤلفون: Hiroki URA, Takehisa TAKAISHI, 浦 弘樹, 高石 武久

    المصدر: 日本航空宇宙学会誌 / Aeronautical and Space Sciences Japan. 2021, 69(4):133


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  19. 19
    Academic Journal
    Flight Demonstration for Airframe Noise Reduction Technologies-FQUROH Project 'Hisho' Phase / 機体騒音低減技術の飛行実証（FQUROH飛翔フェーズ）

    المؤلفون: Akihisa SHIMADA, Akio OCHI, Hirokazu SHOJI, Hiroki URA, Hitoshi ARIZONO, Kazuhide ISOTANI, Kazuomi YAMAMOTO, Kenji HAYAMA, Kensuke HAYASHI, Masataka KOHZAI, Mitsuhiro MURAYAMA, Ryotaro SAKAI, Takehisa TAKAISHI, Toshiyuki KUMADA, Yasushi ITO, Yosuke UENO, Yuta TSUCHIMOTO, Yuzuru YOKOKAWA, 上野 陽亮, 伊藤 靖, 土本 雄大, 坂井 玲太郎, 少路 宏和, 山本 一臣, 島田 彰久, 有薗 仁, 村山 光宏, 林 賢亮, 横川 譲, 浦 弘樹, 熊田 俊行, 磯谷 和秀, 葉山 賢司, 越智 章生, 香西 政孝, 高石 武久

    المصدر: 日本航空宇宙学会誌 / Aeronautical and Space Sciences Japan. 2021, 69(2):49


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  20. 20
    Academic Journal
    Data-Driven Sparse Sampling for Reconstruction of Acoustic-Wave Characteristics Used in Aeroacoustic Beamforming

    المؤلفون: Sayumi Kaneko, Yuta Ozawa, Kumi Nakai, Yuji Saito, Taku Nonomura, Keisuke Asai, Hiroki Ura

    المصدر: Applied Sciences, Vol 11, Iss 9, p 4216 (2021)

    مصطلحات موضوعية: beamforming, Amiet method, data-driven sparse sampling, singular value decomposition, sensor optimization, Technology, Engineering (General). Civil engineering (General), TA1-2040, Biology (General), QH301-705.5, Physics, QC1-999, Chemistry, QD1-999

    وصف الملف: electronic resource

    Relation: https://www.mdpi.com/2076-3417/11/9/4216; https://doaj.org/toc/2076-3417

    URL الوصول: https://doaj.org/article/42c74fa3e18c440aa07720668fc36317

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