Search

Author/Creator Tranebjaerg, Lisbeth

1. 3‐Methylglutaconic aciduria—lessons from 50 genes and 977 patients. Issue 6 (25th January 2013)

Authors:
Wortmann, Saskia B.; Kluijtmans, Leo A. J.; Rodenburg, Richard J.; Sass, Jörn Oliver; Nouws, Jessica; van Kaauwen, Edwin P.; Kleefstra, Tjitske; Tranebjaerg, Lisbeth; de Vries, Maaike C.; Isohanni, Pirjo; Walter, Katharina; Alkuraya, Fowzan S.; Smuts, Izelle; Reinecke, Carolus J.; van der Westhui...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 36:Issue 6(2013)
Page Start:
913
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Monogenic diabetes syndromes: Locus‐specific databases for Alström, Wolfram, and Thiamine‐responsive megaloblastic anemia. Issue 7 (1st June 2017)

Authors:
Astuti, Dewi; Sabir, Ataf; Fulton, Piers; Zatyka, Malgorzata; Williams, Denise; Hardy, Carol; Milan, Gabriella; Favaretto, Francesca; Yu‐Wai‐Man, Patrick; Rohayem, Julia; López de Heredia, Miguel; Hershey, Tamara; Tranebjaerg, Lisbeth; Chen, Jian‐Hua; Chaussenot, Annabel; Nunes, Virginia; Marshal...
Journal:
Human mutation
Issue:
Volume 38:Issue 7(2017)
Page Start:
764
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

Limit your search