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Author/Creator Koelling, Nils

1. A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis. (3rd April 2019)

Authors:
Goos, Jacqueline A C; Vogel, Walter K; Mlcochova, Hana; Millard, Christopher J; Esfandiari, Elahe; Selman, Wisam H; Calpena, Eduardo; Koelling, Nils; Carpenter, Evan L; Swagemakers, Sigrid M A; van der Spek, Peter J; Filtz, Theresa M; Schwabe, John W R; Iwaniec, Urszula T; Mathijssen, Irene M J; ...
Journal:
Human molecular genetics
Issue:
Volume 28:Number 15(2019)
Page Start:
2501
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases. Issue 10 (6th July 2017)

Authors:
Bernkopf, Marie; Hunt, David; Koelling, Nils; Morgan, Tim; Collins, Amanda L.; Fairhurst, Joanna; Robertson, Stephen P.; Douglas, Andrew G. L.; Goriely, Anne
Journal:
Human mutation
Issue:
Volume 38:Issue 10(2017)
Page Start:
1360
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗