Not logged inClinical development of a blood biomarker using apolipoprotein-A2 isoforms for early detection of pancreatic cancer
Kashiro, Ayumi; Kobayashi, Michimoto; Oh, Takanori; Miyamoto, Mitsuko; Atsumi, Jun; Nagashima, Kengo; Takeuchi, Keiko; Nara, Satoshi; Hijioka, Susumu; Morizane, Chigusa; Kikuchi, Shojiro; Kato, Shingo; Kato, Ken; Ochiai, Hiroki; Obata, Daisuke; Shizume, Yuya; Konishi, Hiroshi; Nomura, Yumiko; Matsuyama, Kotone; Xie, Cassie; Wong, Christin; Huang, Ying; Jung, Giman; Srivastava, Sudhir; Kutsumi, Hiromu; Honda, Kazufumi
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SaveMissense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy
Parenti, Ilaria; Lehalle, Daphne; Nava, Caroline; Torti, Erin; Leitao, Elsa; Person, Richard; Mizuguchi, Takeshi; Matsumoto, Naomichi; Kato, Mitsuhiro; Nakamura, Kazuyuki; de Man, Stella A.; Cope, Heidi; Shashi, Vandana; Network, Undiagnosed Diseases; Friedman, Jennifer; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Muffels, Irena; van Hasselt, Peter M.; Petit, Florence; Smol, Thomas; Le Guyader, Gwenael; Bilan, Frederic; Sorlin, Arthur; Vitobello, Antonio; Philippe, Christophe; van de Laar, Ingrid M. B. H.; van Slegtenhorst, Marjon A.; Campeau, Philippe M.; Au, Ping Yee Billie; Nakashima, Mitsuko; Saitsu, Hirotomo; Yamamoto, Tatsuya; Nomura, Yumiko; Louie, Raymond J.; Lyons, Michael J.; Dobson, Amy; Plomp, Astrid S.; Motazacker, M. Mahdi; Kaiser, Frank J.; Timberlake, Andrew T.; Fuchs, Sabine A.; Depienne, Christel; Mignot, Cyril
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SaveTwo patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations
Shima, Hirohito; Koehler, Katrin; Nomura, Yumiko; Sugimoto, Kazuhiko; Satoh, Akira; Ogata, Tsutomu; Fukami, Maki; Juhlen, Ramona; Schuelke, Markus; Mohnike, Klaus; Huebner, Angela; Narumi, Satoshi
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