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| Issue Date | Title | Author(s) |
|---|---|---|
| 2019 | Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1 | SAIDA, Ken; KIM, Chong Ae; CERONI, Jose Ricardo Magliocco; BERTOLA, Debora Romeo; HONJO, Rachel Sayuri; MITSUHASHI, Satomi; TAKATA, Atsushi; MIZUGUCHI, Takeshi; MIYATAKE, Satoko; MIYAKE, Noriko; MATSUMOTO, Naomichi |
| 2019 | Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant | UCHIYAMA, Yuri; KIM, Chong A.; PASTORINO, Antonio Carlos; CERONI, Jose; LIMA, Patricia Picciarelli; DORNA, Mayra de Barros; HONJO, Rachel Sayuri; BERTOLA, Debora; HAMANAKA, Kohei; FUJITA, Atsushi; MITSUHASHI, Satomi; MIYATAKE, Satoko; TAKATA, Atsushi; MIYAKE, Noriko; MIZUGUCHI, Takeshi; MATSUMOTO, Naomichi |
| 2019 | Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome | AOI, Hiromi; MIZUGUCHI, Takeshi; CERONI, Jose Ricard; KIM, Veronica Eun Hue; FURQUIM, Isabel; HONJO, Rachel S.; IWAKI, Takuma; SUZUKI, Toshifumi; SEKIGUCHI, Futoshi; UCHIYAMA, Yuri; AZUMA, Yoshiteru; HAMANAKA, Kohei; KOSHIMIZU, Eriko; MIYATAKE, Satoko; MITSUHASHI, Satomi; TAKATA, Atsushi; MIYAKE, Noriko; TAKEDA, Satoru; ITAKURA, Atsuo; BERTOLA, Debora R.; KIM, Chong Ae; MATSUMOTO, Naomichi |
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