Hasil Pencarian - Naoya Morisada

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  1. 1
    4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay

    4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay oleh Yukino Kawanami, Tomoko Horinouchi, Naoya Morisada, Takeshi Kato, Kandai Nozu

    Diterbitkan 2023-01-01
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  2. 2
    End-stage ADPKD with a low-frequency PKD1 mosaic variant accelerated by chemoradiotherapy

    End-stage ADPKD with a low-frequency PKD1 mosaic variant accelerated by chemoradiotherapy oleh Hiroaki Hanafusa, Hiroshi Yamaguchi, Naoya Morisada, Ming Juan YE, Riki Matsumoto, Hiroaki Nagase, Kandai Nozu

    Diterbitkan 2024-03-01
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  3. 3
    A novel IFITM5 variant associates with phenotype of osteoporosis with calvarial doughnut lesions

    A novel IFITM5 variant associates with phenotype of osteoporosis with calvarial doughnut lesions oleh Riikka Mäkitie, Minna Pekkinen, Naoya Morisada, Daisuke Kobayashi, Yoshiro Yonezawa, Gen Nishimura, Shiro Ikegawa, Outi Mäkitie

    Diterbitkan 2021-04-01
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  4. 4
    Genetic analysis diagnosed Bardet–Biedl syndrome in a patient with a clinical diagnosis of Senior–Løken syndrome

    Genetic analysis diagnosed Bardet–Biedl syndrome in a patient with a clinical diagnosis of Senior–Løken syndrome oleh Yuko Fujii, Hideki Matsumura, Akihiko Shirasu, Hyogo Nakakura, Satoshi Yamazaki, Naoya Morisada, Kazumoto Iijima, Akira Ashida

    Diterbitkan 2020-10-01
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  5. 5
    De novo NSF mutations cause early infantile epileptic encephalopathy

    De novo NSF mutations cause early infantile epileptic encephalopathy oleh Hisato Suzuki, Takeshi Yoshida, Naoya Morisada, Tomoko Uehara, Kenjiro Kosaki, Katsunori Sato, Kohei Matsubara, Toshiyuki Takano‐Shimizu, Toshiki Takenouchi

    Diterbitkan 2019-11-01
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  6. 6
    Autosomal Dominant Tubulointerstitial Kidney Disease HNF1B With Maturity-Onset Diabetes of the Young: A Case Report With Kidney Biopsy

    Autosomal Dominant Tubulointerstitial Kidney Disease HNF1B With Maturity-Onset Diabetes of the Young: A Case Report With Kidney Biopsy oleh Yuki Oba, Naoki Sawa, Hiroki Mizuno, Junichi Hoshino, Keiichi Kinowaki, Kenichi Ohashi, Naoya Morisada, Kazumoto Iijima, Yutaka Yamaguchi, Yoshifumi Ubara

    Diterbitkan 2021-03-01
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  7. 7
    Phenotypic differences and similarities of monozygotic twins with maturity‐onset diabetes of the young type 5

    Phenotypic differences and similarities of monozygotic twins with maturity‐onset diabetes of the young type 5 oleh Yasuko Ohara, Yuko Okada, Tomoko Yamada, Kenji Sugawara, Masayuki Kanatani, Hidenori Fukuoka, Yushi Hirota, Takaki Maeda, Naoya Morisada, Kazumoto Iijima, Wataru Ogawa

    Diterbitkan 2019-07-01
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  8. 8
    Corrigendum to: ‘‘Salbutamol inhibits ubiquitin-mediated survival motor neuron protein degradation in spinal muscular atrophy cells’’ [Biochem. Biophys. Rep. 4 (2015) 351–356]

    Corrigendum to: ‘‘Salbutamol inhibits ubiquitin-mediated survival motor neuron protein degradation in spinal muscular atrophy cells’’ [Biochem. Biophys. Rep. 4 (2015) 351–356]... oleh Nur Imma Fatimah Harahap, Dian Kesumapramudya Nurputra, Mawaddah Ar Rochmah, Ai Shima, Naoya Morisada, Toru Takarada, Atsuko Takeuchi, Yumi Tohyama, Shinichiro Yanagisawa, Hisahide Nishio

    Diterbitkan 2016-03-01
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  9. 9
    A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency

    A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency oleh Naoko Nakatani, Akihiro Tamura, Hiroaki Hanafusa, Nanako Nino, Nobuyuki Yamamoto, Hiroyuki Awano, Yasuhiro Tanaka, Naoya Morisada, Suguru Uemura, Atsuro Saito, Daiichiro Hasegawa, Kandai Nozu, Yoshiyuki Kosaka

    Diterbitkan 2024-03-01
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  10. 10
    Phenotype–genotype correlation in patients with typical and atypical branchio-oto-renal syndrome

    Phenotype–genotype correlation in patients with typical and atypical branchio-oto-renal syndrome oleh Masatsugu Masuda, Ayako Kanno, Kiyomitsu Nara, Hideki Mutai, Naoya Morisada, Kazumoto Iijima, Noriko Morimoto, Atsuko Nakano, Tomoko Sugiuchi, Yasuhide Okamoto, Sawako Masuda, Sayaka Katsunuma, Kaoru Ogawa, Tatsuo Matsunaga

    Diterbitkan 2022-01-01
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  11. 11
    Novel Digenic Variants in COL4A4 and COL4A5 Causing X-Linked Alport Syndrome: A Case Report

    Novel Digenic Variants in COL4A4 and COL4A5 Causing X-Linked Alport Syndrome: A Case Report oleh Hideki Uedono, Katsuhito Mori, Shinya Nakatani, Kohei Watanabe, Rino Nakaya, Fumiyuki Morioka, Kazuma Sone, Chie Ono, Junko Hotta, Akihiro Tsuda, Naoya Morisada, Toshiyuki Seto, Kandai Nozu, Masanori Emoto

    Diterbitkan 2024-01-01
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  12. 12
    Natural History and Genotype–Phenotype Correlation in Female X-Linked Alport Syndrome

    Natural History and Genotype–Phenotype Correlation in Female X-Linked Alport Syndrome oleh Tomohiko Yamamura, Kandai Nozu, Xue Jun Fu, Yoshimi Nozu, Ming Juan Ye, Akemi Shono, Satoko Yamanouchi, Shogo Minamikawa, Naoya Morisada, Koichi Nakanishi, Yuko Shima, Norishige Yoshikawa, Takeshi Ninchoji, Ichiro Morioka, Hiroshi Kaito, Kazumoto Iijima

    Diterbitkan 2017-09-01
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  13. 13
    Clinical and Genetic Characteristics in Patients With Gitelman Syndrome

    Clinical and Genetic Characteristics in Patients With Gitelman Syndrome oleh Junya Fujimura, Kandai Nozu, Tomohiko Yamamura, Shogo Minamikawa, Keita Nakanishi, Tomoko Horinouchi, China Nagano, Nana Sakakibara, Koichi Nakanishi, Yuko Shima, Kenichi Miyako, Yoshimi Nozu, Naoya Morisada, Hiroaki Nagase, Takeshi Ninchoji, Hiroshi Kaito, Kazumoto Iijima

    Diterbitkan 2019-01-01
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  14. 14
    Pathogenic evaluation of synonymous COL4A5 variants in X‐linked Alport syndrome using a minigene assay

    Pathogenic evaluation of synonymous COL4A5 variants in X‐linked Alport syndrome using a minigene assay oleh Tomoko Horinouchi, Tomohiko Yamamura, Shogo Minamikawa, China Nagano, Nana Sakakibara, Koichi Nakanishi, Yuko Shima, Naoya Morisada, Shinya Ishiko, Yuya Aoto, Hiroaki Nagase, Hiroki Takeda, Rini Rossanti, Shingo Ishimori, Hiroshi Kaito, Masafumi Matsuo, Kazumoto Iijima, Kandai Nozu

    Diterbitkan 2020-08-01
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  15. 15
    Complete Disruption of All Nitric Oxide Synthase Genes Causes Markedly Accelerated Renal Lesion Formation Following Unilateral Ureteral Obstruction in Mice In Vivo

    Complete Disruption of All Nitric Oxide Synthase Genes Causes Markedly Accelerated Renal Lesion Formation Following Unilateral Ureteral Obstruction in Mice In Vivo oleh Naoya Morisada, Masayoshi Nomura, Hisae Nishii, Yumi Furuno, Mayuko Sakanashi, Ken Sabanai, Yumiko Toyohira, Susumu Ueno, Seiji Watanabe, Masahito Tamura, Tetsuro Matsumoto, Akihide Tanimoto, Yasuyuki Sasaguri, Hiroaki Shimokawa, Koichi Kusuhara, Nobuyuki Yanagihara, Akira Shirahata, Masato Tsutsui

    Diterbitkan 2010-01-01
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  16. 16
    Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome

    Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome oleh Tomohiko Yamamura, Kandai Nozu, Shogo Minamikawa, Tomoko Horinouchi, Nana Sakakibara, China Nagano, Yuya Aoto, Shinya Ishiko, Koichi Nakanishi, Yuko Shima, Hiroaki Nagase, Rini Rossanti, Ming J. Ye, Yoshimi Nozu, Shingo Ishimori, Naoya Morisada, Hiroshi Kaito, Kazumoto Iijima

    Diterbitkan 2019-09-01
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  17. 17
    Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases

    Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases oleh Atsushi Kondo, China Nagano, Shinya Ishiko, Takashi Omori, Yuya Aoto, Rini Rossanti, Nana Sakakibara, Tomoko Horinouchi, Tomohiko Yamamura, Sadayuki Nagai, Eri Okada, Yuko Shima, Koichi Nakanishi, Takeshi Ninchoji, Hiroshi Kaito, Hiroki Takeda, Hiroaki Nagase, Naoya Morisada, Kazumoto Iijima, Kandai Nozu

    Diterbitkan 2021-08-01
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  18. 18
    Corrigendum to “Detecting MUC1 Variants in Patients Clinicopathologically Diagnosed With Having Autosomal Dominant Tubulointerstitial Kidney Disease”Kidney International Reports, Volume 7, Issue 4, April 2022, Pages 857-866.

    Corrigendum to “Detecting MUC1 Variants in Patients Clinicopathologically Diagnosed With Having Autosomal Dominant Tubulointerstitial Kidney Disease”Kidney International Reports, V... oleh Eri Okada, Naoya Morisada, Tomoko Horinouchi, Hideki Fujii, Takayuki Tsuji, Masayoshi Miura, Hideyuki Katori, Masashi Kitagawa, Kunio Morozumi, Takanobu Toriyama, Yuki Nakamura, Ryuta Nishikomori, Sadayuki Nagai, Atsushi Kondo, Yuya Aoto, Shinya Ishiko, Rini Rossanti, Nana Sakakibara, China Nagano, Tomohiko Yamamura, Shingo Ishimori, Joichi Usui, Kunihiro Yamagata, Kazumoto Iijima, Toshiyuki Imasawa, Kandai Nozu

    Diterbitkan 2023-05-01
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  19. 19
    Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5

    Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5 oleh Tomohiko Yamamura, Tomoko Horinouchi, Tomomi Adachi, Maki Terakawa, Yutaka Takaoka, Kohei Omachi, Minoru Takasato, Kiyosumi Takaishi, Takao Shoji, Yoshiyuki Onishi, Yoshito Kanazawa, Makoto Koizumi, Yasuko Tomono, Aki Sugano, Akemi Shono, Shogo Minamikawa, China Nagano, Nana Sakakibara, Shinya Ishiko, Yuya Aoto, Misato Kamura, Yutaka Harita, Kenichiro Miura, Shoichiro Kanda, Naoya Morisada, Rini Rossanti, Ming Juan Ye, Yoshimi Nozu, Masafumi Matsuo, Hirofumi Kai, Kazumoto Iijima, Kandai Nozu

    Diterbitkan 2020-06-01
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