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) ↗
2. Danish retinoblastoma patients 1943–2013 – genetic testing and clinical implications. (2nd April 2016) Authors: Gregersen, Pernille A.; Urbak, Steen F.; Funding, Mikkel; Overgaard, Jens; Jensen, Uffe B.; Alsner, Jan Journal: Acta oncologica Issue: Volume 55:Number 4(2016) Page Start: 412 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Deleterious mis‐splicing of STK11 caused by a novel single‐nucleotide substitution in the 3′ polypyrimidine tract of intron five. Issue 9 (23rd June 2020) Authors: Terkelsen, Thorkild; Larsen, Ole H.; Vang, Søren; Jensen, Uffe B.; Wikman, Friedrik Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 9(2020) Page Start: n/a 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) ↗