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| Issue Date | Title | Author(s) |
|---|---|---|
| 2019 | Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta | MOOSA, Shahida; YAMAMOTO, Guilherme L.; GARBES, Lutz; KEUPP, Katharina; BELEZA-MEIRELES, Ana; MORENO, Carolina Araujo; VALADARES, Eugenia Ribeiro; SOUSA, Sergio B. de; MAIA, Sofia; SARAIVA, Jorge; HONJO, Rachel S.; KIM, Chong Ae; MENEZES, Hamilton Cabral de; LAUSCH, Ekkehart; LORINI, Pablo Villavicencio; LAMOUNIER JR., Arsonval; CARNIERO, Tulio Canella Bezerra; GIUNTA, Cecilia; ROHRBACH, Marianne; JANNER, Marco; SEMLER, Oliver; BELEGGIA, Filippo; LI, Yun; YIGIT, Goekhan; REINTJES, Nadine; ALTMUELLER, Janine; NUERNBERG, Peter; CAVALCANTI, Denise P.; ZABEL, Bernhard; WARMAN, Matthew L.; BERTOLA, Debora R.; WOLLNIK, Bernd; NETZER, Christian |
| 2019 | Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation | GUO, 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 |
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