Search Results - Gen Nishimura

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  1. 1

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

    Published in South African Journal of Radiology (2013-06-01)
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  2. 2

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

    Published in Case Reports in Pediatrics (2016-01-01)
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  3. 3

    A girl with intragenic variants in MARS2 and a chondrodysplasia phenotype by Hiroyuki Iijima, Yuko Tsujioka, Yoshiyuki Tsutsumi, Gen Nishimura, Yasushi Okazaki, Kei Murayama, Mitsuru Kubota, Akira Ohtake

    Published in Molecular Genetics and Metabolism Reports (2025-03-01)
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  4. 4

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

    Published in Endocrines (2022-07-01)
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  5. 5

    Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing by Erika Nakajima, Yuko Yokohama, Saori Sugiyama, Mio Taketazu, Kenrokuro Mitsube, Takahiro Yamada, Anna Hammarsjö, Giedre Grigelioniene, Gen Nishimura, Yoshio Makita

    Published in Human Genome Variation (2024-12-01)
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  6. 6

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

    Published in HGG Advances (2023-01-01)
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  7. 7

    Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome by 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

    Published in Frontiers in Genetics (2023-06-01)
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  8. 8

    Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13 by 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

    Published in npj Genomic Medicine (2023-11-01)
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  9. 9

    Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations. by 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

    Published in PLoS ONE (2016-01-01)
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