Search Results - Hirokazu Kanegane
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Case Report: GATA2 deficiency in two families with novel frameshift variants highlighting phenotypic diversity and need for early diagnosis by Miko Morimoto, Takuro Nishikawa, Atsushi Hijikata, Hiroshi Kasabata, Nobuhisa Maeda, Shuji Kanmura, Shogo Horikawa, Jun Nagahama, Aki Nakamura, Tatsuro Nakamura, Takanari Abematsu, Shunsuke Nakagawa, Kazuhiro Shimura, Satoshi Narumi, Hirokazu Kanegane, Yasuhiro Okamoto
Published 2025-07-01
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B-cell immunodeficiency associated with polynucleotide kinase 3′-phosphatase (PNKP) deficiency by Sanami Takada, MD, PhD, Tsubasa Okano, MD, PhD, Kay Tanita, MD, PhD, Kaima Tsukada, PhD, Masato Watanabe, MD, Atsushi Hijikata, PhD, Takuya Naruto, PhD, Tzu-Wen Yeh, PhD, Saki Kasuga, MD, PhD, Sadao Tokimasa, MD, PhD, Mariko Taniguchi-Ikeda, MD, PhD, Reina Ogata, MD, Azusa Ikeda, MD, PhD, Tomohide Goto, MD, PhD, Hitoshi Osaka, MD, PhD, Masatoshi Takagi, MD, PhD, Kohsuke Imai, MD, PhD, Tomohiro Morio, MD, PhD, Mirjam van der Burg, PhD, Mikio Shimada, PhD, Hirokazu Kanegane, MD, PhD
Published 2025-08-01
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