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Issue Date | Title | Author(s) |
---|---|---|
2019 | Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines | GASPARINI, Yanca; MONTENEGRO, Marilia M.; NOVO-FILHO, Gil M.; CERONI, Jose R. M.; HONJO, Rachel S.; ZANARDO, Evelin A.; DIAS, Alexandre T.; NASCIMENTO, Amom M.; COSTA, Thais V. M. M.; MADIA, Fabricia A.; CHEHIMI, Samar N.; DAMASCENO, Jullian G.; KIM, Chong A.; KULIKOWSKI, Leslie D. |
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 |
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