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Atypical case of neonatal-onset Gaucher disease type 3b: A case report by Takanori Onuki, Kinuko Kojima, Kentaro Sawano, Nao Shibata, Yohei Ogawa, Go Hasegawa, Aya Narita, Hiromi Nyuzuki
Published 2025-06-01Get full text
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De novo retrotransposon insertion into the FGFR1 gene in a boy with congenital hypogonadotropic hypogonadism: a case report by Kentaro Sawano, Keisuke Nagasaki, Erina Suzuki, Yasuko Ogiwara, Ikuko Kageyama, Maki Fukami, Maki Fukami, Yoko Kuroki, Yoko Kuroki, Yoko Kuroki
Published 2025-06-01Get full text
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