Loeys-Dietz syndrome with a novel in-frame SMAD3 deletion diagnosed as a result of postpartum aortic dissection: A case report by Takeshi Nagao, Momoko Inoue, Yuki Ito, Takashi Kunihara, Hiroshi Kawame, Osamu Samura, Aikou Okamoto

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Novel missense COL2A1 variant in a fetus with achondrogenesis type II by Yukari Kobayashi, Yuki Ito, Kosuke Taniguchi, Kana Harada, Michihiro Yamamura, Taisuke Sato, Ken Takahashi, Hiroshi Kawame, Kenichiro Hata, Osamu Samura, Aikou Okamoto

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The Health History of First-Degree Relatives’ Dyslipidemia Can Affect Preferences and Intentions following the Return of Genomic Results for Monogenic Familial Hypercholesterolemia... by Tomoharu Tokutomi, Akiko Yoshida, Akimune Fukushima, Kayono Yamamoto, Yasushi Ishigaki, Hiroshi Kawame, Nobuo Fuse, Fuji Nagami, Yoichi Suzuki, Mika Sakurai-Yageta, Akira Uruno, Kichiya Suzuki, Kozo Tanno, Hideki Ohmomo, Atsushi Shimizu, Masayuki Yamamoto, Makoto Sasaki

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GFAP variant p. Tyr366Cys demonstrated widespread brain cavitation in neonatal Alexander disease. by Hirokazu Takeuchi, MD, Norimichi Higurashi, MD, PhD, Hiroshi Kawame, MD, PhD, Tadashi Kaname, MD, PhD, Kumiko Yanagi, DDSc, PhD, Yuichiro Nonaka, MD, PhD, Tatsuya Hirotsu, MD, Satoshi Matsushima, MD, PhD, Tetsuya Shimizu, MD, PhD, Taku Gomi, MD, Nei Fukasawa, MD

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