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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 | 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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