未登录
分享
收藏
分享
收藏
分享
收藏
分享
收藏
分享
收藏
分享
收藏
分享
收藏
分享
收藏
分享
收藏Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly
Hehr, Ute; Pineda-Alvarez, Daniel E.; Uyanik, Goekhan; Hu, Ping; Zhou, Nan; Hehr, Andreas; Schell-Apacik, Chayim; Altus, Carola; Daumer-Haas, Cornelia; Meiner, Annechristin; Steuernagel, Peter; Roessler, Erich; Winkler, Juergen; Muenke, Maximilian
分享
收藏The Mutational Spectrum of Holoprosencephaly-Associated Changes within the SHH Gene in Humans Predicts Loss-of-Function Through Either Key Structural Alterations of the Ligand or Its Altered Synthesis
Roessler, Erich; El-Jaick, Kenia B.; Dubourg, Christele; Velez, Jorge I.; Solomon, Benjamin D.; Pineda-Alvarez, Daniel E.; Lacbawan, Felicitas; Zhou, Nan; Ouspenskaia, Maia; Paulussen, Aimee; Smeets, Hubert J.; Hehr, Ute; Bendavid, Claude; Bale, Sherri; Odent, Sylvie; David, Veronique; Muenke, Maximilian
分享
收藏The Full Spectrum of Holoprosencephaly-Associated Mutations within the ZIC2 Gene in Humans Predicts Loss-of-Function as the Predominant Disease Mechanism
Roessler, Erich; Lacbawan, Felicitas; Dubourg, Christele; Paulussen, Aimee; Herbergs, Jos; Hehr, Ute; Bendavid, Claude; Zhou, Nan; Ouspenskaia, Maia; Bale, Sherri; Odent, Sylvie; David, Veronique; Muenke, Maximilian
分享
收藏