Search Results - Gen Nishimura

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  1. 1
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    In Memory of Jürgen W. Spranger, MD (1931‐2025) Autoría: Andrea Superti‐Furga, Sheila Unger, Gen Nishimura, Christine Hall, Carlos R. Ferreira

    Published 2025
    Fuente: Wiley Open Access
    Tipo de material: Artículo Open Access
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  2. 2
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    A Case of Penttinen Syndrome With Radiographic Acroosteolysis From Age 3 Years Autoría: Kazuhiro Shimura, Machiko Toki, Yuko Tsujioka, Gen Nishimura, Tomohiro Ishii, Tomonobu Hasegawa

    Published 2025
    Fuente: Wiley Open Access
    Tipo de material: Artículo Open Access
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  3. 3
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    Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology Autoría: Line Aagaard Nolting, Tess Holling, Gen Nishimura, Jakob Ek, Mads Bak, Merete Ljungberg, Kerstin Kutsche, Hanne Hove

    Published 2024
    Fuente: Wiley Open Access
    Tipo de material: Artículo Open Access
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  4. 4
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    RMRP‐related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review Autoría: Noboru Uchida, Tomohiro Ishii, Gen Nishimura, Takeshi Sato, Gen Kuratsuji, Keisuke Nagasaki, Yuki Hosokawa, Eriko Adachi, Kei Takasawa, Kenichi Kashimada, Yuko Tsujioka, Tomonobu Hasegawa

    Published 2024
    Fuente: Wiley Open Access
    Tipo de material: Artículo Open Access
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  5. 5
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    Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect Autoría: Pernille Axél Gregersen, Anna Hammarsjö, Lise Graversen, Nis Brix, Hillevi Lindelöf, Uffe Birk Jensen, Stense Farholt, Sune Rubak, Jesper Bjerre, Serena G. Piticchio, Thorkild Terkelsen, Gen Nishimura, Michel Bach Hellfritzsch, Giedre Grigelioniene

    Published 2024
    Fuente: Wiley Open Access
    Tipo de material: Artículo Open Access
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