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Results 1-4 of 4 (Search time: 0.004 seconds).
Issue DateTitleAuthor(s)
2019Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndromeAOI, 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
2019Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain MalformationGUO, Long; BERTOLA, Debora Romeo; TAKANOHASHI, Asako; SAITO, Asuka; SEGAWA, Yuko; YOKOTA, Takanori; ISHIBASHI, Satoru; NISHIDA, Yoichiro; YAMAMOTO, Guilherme Lopes; FRANCO, Jose Francisco da Silva; HONJO, Rachel Sayuri; KIM, Chong Ae; MUSSO, Camila Manso; TIMMONS, Margaret; PIZZINO, Amy; TAFT, Ryan J.; LAJOIE, Bryan; KNIGHT, Melanie A.; FISCHBECK, Kenneth H.; SINGLETON, Andrew B.; FERREIRA, Carlos R.; WANG, Zheng; YAN, Li; GARBERN, James Y.; SIMSEK-KIPER, Pelin O.; OHASHI, Hirofumi; ROBEY, Pamela G.; BOYDE, Alan; MATSUMOTO, Naomichi; MIYAKE, Noriko; SPRANGER, Juergen; SCHIFFMANN, Raphael; VANDERVER, Adeline; NISHIMURA, Gen; PASSOS-BUENO, Maria Rita dos Santos; SIMONS, Cas; ISHIKAWA, Kinya; IKEGAWA, Shiro
2019Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1SAIDA, 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
2019Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variantUCHIYAMA, 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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