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January 09, 2025
First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pa...
Eriko Nishi, Kumiko Yanagi, Morimasa Shima, et al.
March 09, 2024
Bernard-Soulier syndrome caused by a novel GP1BB variant and 22q11.2 deletion
Rintaro Nagoshi, Atsushi Sakamoto, Tsuyoshi Imai, et al.
May 11, 2022
Splenectomy as an effective treatment for macrothrombocytopenia in Takenouchi-Kosaki...
Shio Yamano, Akihiro Iguchi , Kotaro Ishikawa, et al.
May 21, 2020
NT5E mutation in sisters who underwent aortic valve replacements for aortic stenosis
Tetsuro Uchida, Atsushi Yamashita, Ai Ishizawa, et al.