Search

Author/Creator Jensen, Uffe B.

1. Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach. Issue 12 (23rd October 2022)

Authors:
Thomassen, Mads; Mesman, Romy L. S.; Hansen, Thomas V. O.; Menendez, Mireia; Rossing, Maria; Esteban‐Sánchez, Ada; Tudini, Emma; Törngren, Therese; Parsons, Michael T.; Pedersen, Inge S.; Teo, Soo H.; Kruse, Torben A.; Møller, Pål; Borg, Åke; Jensen, Uffe B.; Christensen, Lise L.; Singer, Christi...
Journal:
Human mutation
Issue:
Volume 43:Issue 12(2022)
Page Start:
1921
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Magnetic resonance neurography and diffusion tensor imaging of the peripheral nerves in patients with Charcot‐Marie‐Tooth Type 1A. Issue 6 (29th May 2017)

Authors:
Vaeggemose, Michael; Vaeth, Signe; Pham, Mirko; Ringgaard, Steffen; Jensen, Uffe B.; Tankisi, Hatice; Ejskjaer, Niels; Heiland, Sabine; Andersen, Henning
Journal:
Muscle & nerve
Issue:
Volume 56:Issue 6(2017)
Page Start:
E78
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Mutated Desmoglein‐2 Proteins are Incorporated into Desmosomes and Exhibit Dominant‐Negative Effects in Arrhythmogenic Right Ventricular Cardiomyopathy. Issue 5 (11th March 2013)

Authors:
Rasmussen, Torsten B.; Palmfeldt, Johan; Nissen, Peter H.; Magnoni, Raffaela; Dalager, Søren; Jensen, Uffe B.; Kim, Won Y.; Heickendorff, Lene; Mølgaard, Henning; Jensen, Henrik K.; Baandrup, Ulrik T.; Bross, Peter; Mogensen, Jens
Journal:
Human mutation
Issue:
Volume 34:Issue 5(2013:May)
Page Start:
697
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Novel homozygous CD46 variant with C‐isoform expression affects C3b inactivation in atypical hemolytic uremic syndrome. Issue 10 (31st August 2022)

Authors:
Schack, Vivien R.; Herlin, Morten K.; Pedersen, Henrik; Jensen, J. Magnus Bernth; Færch, Mia; Bundgaard, Bettina; Jensen, Rasmus K.; Jensen, Uffe B.; Christensen, Rikke; Andersen, Gregers R.; Thiel, Steffen; Höllsberg, Per
Journal:
European journal of immunology
Issue:
Volume 52:Issue 10(2022)
Page Start:
1610
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗