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Compound heterozygous RYR1 mutations by whole exome sequencing in a family with three repeated affected fetuses with fetal akinesia.

Nobuhiro Suzumori, Hidehito Inagaki, Ayano Ohtani +9 more · 2018 · European journal of obstetrics, gynecology, and reproductive biology · Elsevier · added 2026-04-24

Nobuhiro Suzumori, Hidehito Inagaki, Ayano Ohtani, Kyoko Kumagai, Eri Takeda, Hiroyuki Yoshihara, Yuki Sawada, Saki Inuzuka, Shigenori Iwagaki, Yuichiro Takahashi, Hiroki Kurahashi, Mayumi Sugiura-Ogasawara Show less

no PDF DOI: 10.1016/j.ejogrb.2018.09.013

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👤 Shigenori Iwagaki

Compound heterozygous RYR1 mutations by whole exome sequencing in a family with three repeated affected fetuses with fetal akinesia.