Phenotypes and genotypes in individuals with
SMC1A
variants
Huisman, Sylvia; Mulder, Paul A.; Redeker, Egbert; Bader, Ingrid; Bisgaard, Anne-Marie; Brooks, Alice; Cereda, Anna; Cinca, Constanza; Clark, Dinah; Cormier-Daire, Valerie; Deardorff, Matthew A.; Diderich, Karin; Elting, Mariet; van Essen, Anthonie; Patrick, David Fitz; Gervasini, Cristina; Gillessen-Kaesbach, Gabriele; Girisha, Katta M.; Hilhorst-Hofstee, Yvonne; Hopman, Saskia; Horn, Denise; Isrie, Mala; Jansen, Sandra; Jespersgaard, Cathrine; Kaiser, Frank J.; Kaur, Maninder; Kleefstra, Tjitske; Krantz, Ian D.; Lakeman, Phillis; Landlust, Annemiek; Lessel, Davor; Michot, Caroline; Moss, Jo; Noon, Sarah E.; Oliver, Chris; Parenti, Ilaria; Pie, Juan; Ramos, Feliciano J.; Rieubland, Claudine; Russo, Silvia; Selicorni, Angelo; Tümer, Zeynep; Vorstenbosch, Rieneke; Wenger, Tara L.; van Balkom, Ingrid; Piening, Sigrid; Wierzba, Jolanta; Hennekam, Raoul C.
- 期刊名称American Journal of Medical Genetics Part A
- 作者Huisman, Sylvia; Mulder, Paul A.; Redeker, Egbert; Bader, Ingrid; Bisgaard, Anne-Marie; Brooks, Alice; Cereda, Anna; Cinca, Constanza; Clark, Dinah; Cormier-Daire, Valerie; Deardorff, Matthew A.; Diderich, Karin; Elting, Mariet; van Essen, Anthonie; Patrick, David Fitz; Gervasini, Cristina; Gillessen-Kaesbach, Gabriele; Girisha, Katta M.; Hilhorst-Hofstee, Yvonne; Hopman, Saskia; Horn, Denise; Isrie, Mala; Jansen, Sandra; Jespersgaard, Cathrine; Kaiser, Frank J.; Kaur, Maninder; Kleefstra, Tjitske; Krantz, Ian D.; Lakeman, Phillis; Landlust, Annemiek; Lessel, Davor; Michot, Caroline; Moss, Jo; Noon, Sarah E.; Oliver, Chris; Parenti, Ilaria; Pie, Juan; Ramos, Feliciano J.; Rieubland, Claudine; Russo, Silvia; Selicorni, Angelo; Tümer, Zeynep; Vorstenbosch, Rieneke; Wenger, Tara L.; van Balkom, Ingrid; Piening, Sigrid; Wierzba, Jolanta; Hennekam, Raoul C.
- 印刷ISSN1552-4825
- 文件大小902.66KB
- 发表时间2017-05-26
- DOI10.1002/ajmg.a.38279