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Subject Clinical genetics

1. A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype. Issue 12 (3rd October 2013)

Authors:
Zweier, Christiane; Kraus, Cornelia; Brueton, Louise; Cole, Trevor; Degenhardt, Franziska; Engels, Hartmut; Gillessen-Kaesbach, Gabriele; Graul-Neumann, Luitgard; Horn, Denise; Hoyer, Juliane; Just, Walter; Rauch, Anita; Reis, André; Wollnik, Bernd; Zeschnigk, Michael; Lüdecke, Hermann-Josef; Wie...
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 12(2013)
Page Start:
838
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. A novel mutation in KIAA0196: identification of a gene involved in Ritscher–Schinzel/3C syndrome in a First Nations cohort. Issue 12 (24th September 2013)

Authors:
Elliott, Alison M; Simard, Louise R; Coghlan, Gail; Chudley, Albert E; Chodirker, Bernard N; Greenberg, Cheryl R; Burch, Tanya; Ly, Valentina; Hatch, Grant M; Zelinski, Teresa
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 12(2013)
Page Start:
819
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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