Division of Clinical Genetics

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2008
Mark Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: An array-based genotype-phenotype correlation and a comprehensive review of previously published cases.
Davidsson, Josef ^LU ; Collin, Anna ^LU ; Olsson, Mia Engman ; Lundgren, Johan ^LU and Soller, Maria ^LU (2008) In Epilepsy Research Jun 6. p.69-79
- Contribution to journal › Article
Mark High-resolution molecular cytogenetic analysis of Wilms tumors highlights diagnostic difficulties among small round cell kidney tumors.
Stewénius, Ylva ^LU ; Jin, Yuesheng ^LU ; Øra, Ingrid ^LU ; Panagopoulos, Ioannis ^LU ; Möller, Emely ^LU ; Mertens, Fredrik ^LU ; Sandstedt, Bengt ; Alumets, Jan ^LU ; Åkerman, Måns ^LU and Merks, Johannes Hm , et al. (2008) In Genes, Chromosomes and Cancer 47(10). p.845-852
- Contribution to journal › Article
Mark A PCR/restriction digestion assay for the detection of the transcript variants 1 and 2 of POU5F1.
Panagopoulos, Ioannis ^LU ; Möller, Emely ^LU ; Isaksson, Margareth ^LU and Mertens, Fredrik ^LU (2008) In Genes, Chromosomes and Cancer 47. p.521-529
- Contribution to journal › Article
Mark Ischaemic stroke in hypertensive patients is associated with variations in the PDE4D genome region.
Lövkvist, Håkan ^LU ; Smith, Jan Gustav ; Luthman, Holger ^LU ; Höglund, Peter ^LU ; Norrving, Bo ^LU ; Kristoffersson, Ulf ^LU ; Jönsson, Ann-Cathrin ^LU and Lindgren, Arne ^LU (2008) In European Journal of Human Genetics 16. p.1117-1125
- Contribution to journal › Article
Mark Deep-seated ordinary and atypical lipomas - Histopathology, cytogenetics, clinical features, and outcome in 215 tumours of the extremity and trunk wall
Billing, V ; Mertens, Fredrik ^LU ; Domanski, Henryk ^LU and Rydholm, Anders ^LU (2008) In Journal of Bone and Joint Surgery: British Volume 90B(7). p.929-933
- Contribution to journal › Article
Mark Clinical and cytogenetic features of pediatric dic(9;20)(p13.2;q11.2)-positive B-Cell precursor acute lymphoblastic leukemias: A nordic series of 24 cases and review of the literature
Forestier, Erik ; Gauffin, Fredrika ; Andersen, Mette K. ; Autio, Kirsi ; Borgstrom, Georg ; Golovleva, Irina ; Gustafsson, Britt ; Heim, Sverre ; Heinonen, Kristina and Heyman, Mats , et al. (2008) In Genes, Chromosomes and Cancer 47(2). p.149-158
- Contribution to journal › Scientific review
Mark A novel fusion 5 ' AFF3/3 ' BCL2 originated from a t(2;18)(q11.2;q21.33) translocation in follicular lymphoma
Impera, L. ; Albano, F. ; Lo Cunsolo, C. ; Funes, S. ; Iuzzolino, P. ; Laveder, F. ; Panagopoulos, Ioannis ^LU ; Rocchi, M. and Storlazzi, C. T. (2008) In Oncogene 27(47). p.6187-6190
- Contribution to journal › Article
Mark Detection of a t(1;22)(q23;q 12) translocation leading to an EWSR1-PBX1 fusion gene in a myoepithelioma
Brandal, Petter ; Panagopoulos, Ioannis ^LU ; Bjerkehagen, Bodil ; Gorunova, Ludmilla ; Skjeldal, Sigmund ; Micci, Francesca and Heim, Sverre ^LU (2008) In Genes, Chromosomes and Cancer 47(7). p.558-564
- Contribution to journal › Article
Mark Female haemophilia A caused by skewed X inactivation
Knobe, Karin ^LU ; Sjörin, Elsy ^LU ; Soller, Maria ^LU ; Liljebjorn, H and Ljung, Rolf ^LU (2008) In Haemophilia 14(4). p.846-848
- Contribution to journal › Letter
Mark CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome
Wincent, J ; Holmberg, E ; Stromland, K ; Soller, Maria ^LU ; Mirzaei, L ; Djureinovic, T ; Robinson, K L ; Anderlid, B M and Schoumans, J (2008) In Clinical Genetics 74(1). p.31-38
- Contribution to journal › Article

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