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Author/Creator Redeker, Egbert

1. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. Issue 10 (14th August 2014)

Authors:
Ansari, Morad; Poke, Gemma; Ferry, Quentin; Williamson, Kathleen; Aldridge, Roland; Meynert, Alison M; Bengani, Hemant; Chan, Cheng Yee; Kayserili, Hülya; Avci, Şahin; Hennekam, Raoul C M; Lampe, Anne K; Redeker, Egbert; Homfray, Tessa; Ross, Alison; Falkenberg Smeland, Marie; Mansour, Sahar; Par...
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 10(2014)
Page Start:
659
Record Type:
Journal Article
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2. Phenotypes and genotypes in individuals with SMC1A variants. Issue 8 (26th May 2017)

Authors:
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; FitzPatrick, David; Gervasini, Cristina; Gilles...
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 8(2017)
Page Start:
2108
Record Type:
Journal Article
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4. Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly. Issue 1 (December 2015)

Authors:
Rump, Patrick; Jazayeri, Omid; van Dijk-Bos, Krista; Johansson, Lennart; van Essen, Anthonie; Verheij, Johanna; Veenstra-Knol, Hermine; Redeker, Egbert; Mannens, Marcel; Swertz, Morris; Alizadeh, Behrooz; van Ravenswaaij-Arts, Conny; Sinke, Richard; Sikkema-Raddatz, Birgit
Journal:
BMC medical genomics
Issue:
Volume 9:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗