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  1. 1
    Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency

    Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency by Yo Niida, Wataru Fujita, Sumihito Togi, Hiroki Ura

    Published 2024-07-01
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  2. 2
    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

    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 dupilu... by Eri Uchiyama, Kiminobu Takeda, Hiroto Ono, Akira Shimizu, Sumihito Togi, Hiroki Ura, Yo Niida

    Published 2025-01-01
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