The Quadriceps Angle: Reliability and Accuracy in a Fox (Vulpes vulpes) Pelvic Limb Model von Miles, James E., Frederiksen, Jane V., Jensen, Bente, Kirpensteijn, Jolle, Svalastoga, Eiliv L., Eriksen, Thomas

Volltext

Classification of MSH6 Variants of Uncertain Significance Using Functional Assays von Frederiksen, Jane H., Jensen, Sara B., Tümer, Zeynep, Hansen, Thomas v. O.

Volltext

Ethylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre von Henriques, Bárbara J, Lucas, Tânia G, Rodrigues, João V, Frederiksen, Jane H, Teixeira, Miguel S, Tiranti, Valeria, Bross, Peter, Gomes, Cláudio M

Volltext

A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome von Drost, Mark, Tiersma, Yvonne, Thompson, Bryony A., Frederiksen, Jane H., Keijzers, Guido, Glubb, Dylan, Kathe, Scott, Osinga, Jan, Westers, Helga, Pappas, Lisa, Boucher, Kenneth M., Molenkamp, Siska, Zonneveld, José B., van Asperen, Christi J., Goldgar, David E., Wallace, Susan S., Sijmons, Rolf H., Spurdle, Amanda B., Rasmussen, Lene J., Greenblatt, Marc S., de Wind, Niels, Tavtigian, Sean V.

Volltext

Reclassification of Two MLH1 Variants of Uncertain Significance Utilizing Clinical and Functional Data von Frederiksen, Jane Hübertz, Birkedal, Ulf, Bachmann, Sarah, Eliesen, Elisabeth Victoria, Rasmussen, Lene Juel, Pedersen, Katja Venborg, Al‐Zehhawi, Lana, Boonen, Susanne E., Krogh, Lotte, Rønlund, Karina, Graversen, Lise, Assenholt, Jannie, Schmiegelow, Kjeld, Wadt, Karin, Gerdes, Anne‐Marie, Hansen, Thomas v. O.

Volltext

A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families von Djursby, Malene, Wadt, Karin, Frederiksen, Jane Hübertz, Madsen, Majbritt Busk, Berchtold, Lukas Adrian, Hasselby, Jane Preuss, Willemoe, Gro Linno, Hansen, Thomas V O, Gerdes, Anne-Marie

Volltext

The impact of a breast cancer diagnosis on health-related quality of life. A prospective comparison among middle-aged to elderly women with and without breast cancer von Karlsen, Randi V, Frederiksen, Kirsten, Larsen, Matilde B, von Heymann-Horan, Annika B, Appel, Charlotte W, Christensen, Jane, Tjønneland, Anne, Ross, Lone, Johansen, Christoffer, Bidstrup, Pernille E

Volltext

The impact of a breast cancer diagnosis on health-related quality of life. A prospective comparison among middle-aged to elderly women with and without breast cancer von Karlsen, Randi V., Frederiksen, Kirsten, Larsen, Matilde B., Heymann-Horan, Annika B. Von, Appel, Charlotte W., Christensen, Jane, Tjønneland, Anne, Ross, Lone, Johansen, Christoffer, Bidstrup, Pernille E.

Volltext bestellen