Search

Author/Creator Folcher, Marc

3. C.-61G>A in OVOL2 is a Pathogenic 5′ Untranslated Region Variant Causing Posterior Polymorphous Corneal Dystrophy 1. Issue 1 (30th January 2022)

Authors:
Janeschitz-Kriegl, Lucas; Kamdar, Dhryata; Quinodoz, Mathieu; Kaminska, Karolina; Folcher, Marc; György, Bence; Meyer, Peter; Wild, Andreas; Escher, Pascal; Scholl, Hendrik P. N.; Rivolta, Carlo; Goldblum, David
Journal:
Cornea
Issue:
Volume 41:Issue 1(2022)
Page Start:
89
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. C.-61G>A in OVOL2 is a Pathogenic 5′ Untranslated Region Variant Causing Posterior Polymorphous Corneal Dystrophy 1. Issue 1 (January 2022)

Authors:
Janeschitz-Kriegl, Lucas; Kamdar, Dhryata; Quinodoz, Mathieu; Kaminska, Karolina; Folcher, Marc; György, Bence; Meyer, Peter; Wild, Andreas; Escher, Pascal; Scholl, Hendrik P. N.; Rivolta, Carlo; Goldblum, David
Journal:
Cornea
Issue:
Volume 41:Issue 1(2022)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder. Issue 12 (6th January 2022)

Authors:
Han, Ji Hoon; Ryan, Gavin; Guy, Alyson; Liu, Lu; Quinodoz, Mathieu; Helbling, Ingrid; Lai-Cheong, Joey E; Barwell, Julian; Folcher, Marc; McGrath, John A; Moss, Celia; Rivolta, Carlo
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 12(2022)
Page Start:
1970
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗