Hasil Pencarian - Gen Nishimura

  • Menampilkan 1 - 17 hasil dari 17
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  1. 1
    Pseudoachondroplasia: Report on a South African family

    Pseudoachondroplasia: Report on a South African family oleh Shahida Moosa, Gen Nishimura

    Diterbitkan 2013-06-01
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  2. 2
    Exploring human genetic skeletal disorders provides important insights into skeletogenesis and elucidates basic developmental signaling pathways

    Exploring human genetic skeletal disorders provides important insights into skeletogenesis and elucidates basic developmental signaling pathways oleh Giedre Grigelioniene, Gen Nishimura

    Diterbitkan 2020-12-01
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  3. 3
    Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations

    Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations oleh Manisha Goyal, Seema Kapoor, Shiro Ikegawa, Gen Nishimura

    Diterbitkan 2016-01-01
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  4. 4
    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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  5. 5
    A Case with Spondyloenchondrodysplasia Treated with Growth Hormone

    A Case with Spondyloenchondrodysplasia Treated with Growth Hormone oleh Takanori Utsumi, Satoshi Okada, Kazushi Izawa, Yoshitaka Honda, Gen Nishimura, Ryuta Nishikomori, Rika Okano, Masao Kobayashi

    Diterbitkan 2017-07-01
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  6. 6
    Molecular Basis for Hypochondroplasia in Japan

    Molecular Basis for Hypochondroplasia in Japan oleh Tomohiro Ishii, Masaki Takagi, Keisuke Nagasaki, Toshio Ohara, Kentaro Miyai, Tomoki Kosho, Fumio Takada, Gen Nishimura, Tomonobu Hasegawa

    Diterbitkan 2022-07-01
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  7. 7
    Double non-contiguous fractures in a patient with spondylo-epiphyseal dysplasia with spinal ankylosis treated with open and percutaneous spinal fixation technique: a case report

    Double non-contiguous fractures in a patient with spondylo-epiphyseal dysplasia with spinal ankylosis treated with open and percutaneous spinal fixation technique: a case report oleh Takahiro Ushijima, Kenichi Kawaguchi, Tadashi Matsumoto, Masaki Takagi, Tatsuro Kondoh, Gen Nishimura, Aritoshi Iida, Shiro Ikegawa, Nobuhiko Haga, Go Kato

    Diterbitkan 2018-02-01
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  8. 8
    Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome

    Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome oleh Jong Seop Kim, Hyoungseok Jeon, Hyeran Lee, Jung Min Ko, Yonghwan Kim, Murim Choi, Gen Nishimura, Ok-Hwa Kim, Tae-Joon Cho

    Diterbitkan 2021-05-01
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  9. 9
    New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report

    New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report oleh Ken-ichi Aoyama, Minoru Kimura, Hiroshi Yamazaki, Masahiro Uchibori, Rena Kojima, Yuko Osawa, Kazuyoshi Hosomichi, Yoshihide Ota, Masayuki Tanaka, Shiro Yamada, Gen Nishimura

    Diterbitkan 2019-07-01
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  10. 10
    A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay

    A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay oleh Cameron Young, Dominyka Batkovskyte, Miyuki Kitamura, Maria Shvedova, Yutaro Mihara, Jun Akiba, Wen Zhou, Anna Hammarsjö, Gen Nishimura, Shuichi Yatsuga, Giedre Grigelioniene, Tatsuya Kobayashi

    Diterbitkan 2023-01-01
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  11. 11
    A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta.

    A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta. oleh Masaki Takagi, Tomohiro Ishii, Aileen M Barnes, Maryann Weis, Naoko Amano, Mamoru Tanaka, Ryuji Fukuzawa, Gen Nishimura, David R Eyre, Joan C Marini, Tomonobu Hasegawa

    Diterbitkan 2012-01-01
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  12. 12
    Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome

    Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome oleh Alexandra Garza Flores, Alexandra Garza Flores, Ida Nordgren, Maria Pettersson, Maria Pettersson, Dora Dias-Santagata, Daniel Nilsson, Daniel Nilsson, Anna Hammarsjö, Anna Hammarsjö, Anna Lindstrand, Anna Lindstrand, Dominyka Batkovskyte, Janey Wiggs, David S. Walton, Paula Goldenberg, Jesper Eisfeldt, Jesper Eisfeldt, Angela E. Lin, Ralph S. Lachman, Ralph S. Lachman, Ralph S. Lachman, Gen Nishimura, Gen Nishimura, Giedre Grigelioniene, Giedre Grigelioniene, Giedre Grigelioniene

    Diterbitkan 2023-06-01
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  13. 13
    Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)

    Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG) oleh Yohei Masunaga, Gen Nishimura, Koji Takahashi, Tomiyuki Hishiyama, Masatoshi Imamura, Kenichi Kashimada, Machiko Kadoya, Yoshinao Wada, Nobuhiko Okamoto, Daiju Oba, Hirofumi Ohashi, Mitsuru Ikeno, Yuko Sakamoto, Maki Fukami, Hirotomo Saitsu, Tsutomu Ogata

    Diterbitkan 2022-10-01
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  14. 14
    Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13

    Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13 oleh Prince Jacob, Hillevi Lindelöf, Cecilie F. Rustad, Vernon Reid Sutton, Shahida Moosa, Prajna Udupa, Anna Hammarsjö, Gandham SriLakshmi Bhavani, Dominyka Batkovskyte, Kristian Tveten, Ashwin Dalal, Eva Horemuzova, Ann Nordgren, Emma Tham, Hitesh Shah, Else Merckoll, Laura Orellana, Gen Nishimura, Katta M. Girisha, Giedre Grigelioniene

    Diterbitkan 2023-11-01
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  15. 15
    Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling

    Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling oleh Long Guo, Aritoshi Iida, Gandham SriLakshmi Bhavani, Kalpana Gowrishankar, Zheng Wang, Jing-yi Xue, Juan Wang, Noriko Miyake, Naomichi Matsumoto, Takanori Hasegawa, Yusuke Iizuka, Masashi Matsuda, Tomoki Nakashima, Masaki Takechi, Sachiko Iseki, Shinsei Yambe, Gen Nishimura, Haruhiko Koseki, Chisa Shukunami, Katta M. Girisha, Shiro Ikegawa

    Diterbitkan 2021-04-01
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  16. 16
    Novel RPL13 variants and evidence for incomplete penetrance in a human ribosomopathy with spondyloepimetaphyseal dysplasia

    Novel RPL13 variants and evidence for incomplete penetrance in a human ribosomopathy with spondyloepimetaphyseal dysplasia oleh Alice Costantini, Jessica J. Alm, Francesca Tonelli, Helena Valta, Céline Huber, Anh N. Tran, Valentina Daponte, Nadi Kirova, Yong-Uk Kwon, Jung Yun Bae, Woo Yeong Chung, Shengjiang Tan, Yves Sznajer, Gen Nishimura, Tuomas Näreoja, Alan J. Warren, Valérie Cormier-Daire, Ok-Hwa Kim, Antonella Forlino, Tae-Joon Cho, Outi Mäkitie

    Diterbitkan 2020-10-01
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  17. 17
    Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.

    Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations. oleh Zheng Wang, Aritoshi Iida, Noriko Miyake, Koji M Nishiguchi, Kosuke Fujita, Toru Nakazawa, Abdulrahman Alswaid, Mohammed A Albalwi, Ok-Hwa Kim, Tae-Joon Cho, Gye-Yeon Lim, Bertrand Isidor, Albert David, Cecilie F Rustad, Else Merckoll, Jostein Westvik, Eva-Lena Stattin, Giedre Grigelioniene, Ikuyo Kou, Masahiro Nakajima, Hirohumi Ohashi, Sarah Smithson, Naomichi Matsumoto, Gen Nishimura, Shiro Ikegawa

    Diterbitkan 2016-01-01
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