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2014
Mark Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum
Thorwarth, Anne ; Schnittert-Huebener, Sarah ; Schrumpf, Pamela ; Mueller, Ines ; Jyrch, Sabine ; Dame, Christof ; Biebermann, Heike ; Kleinau, Gunnar ; Katchanov, Juri and Schuelke, Markus , et al. (2014) In Journal of Medical Genetics 51(6). p.375-387
- Contribution to journal › Article
2013
Mark Risk of thyroid cancer in first-degree relatives of patients with non-medullary thyroid cancer by histology type and age at diagnosis: a joint study from five Nordic countries
Fallah, Mahdi ; Pukkala, Eero ; Tryggvadottir, Laufey ; Olsen, Jorgen H. ; Tretli, Steinar ; Sundquist, Kristina ^LU and Hemminki, Kari ^LU (2013) In Journal of Medical Genetics 50(6). p.373-382
- Contribution to journal › Article
2012
Mark BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk
Spurdle, Amanda B. ; Whiley, Phillip J. ; Thompson, Bryony ; Feng, Bingjian ; Healey, Sue ; Brown, Melissa A. ; Pettigrew, Christopher ; Van Asperen, Christi J. ; Ausems, Margreet G. E. M. and Kattentidt-Mouravieva, Anna A. , et al. (2012) In Journal of Medical Genetics 49(8). p.525-532
- Contribution to journal › Article
Mark A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation
Dalgaard, Marlene D. ; Weinhold, Nils ; Edsgard, Daniel ; Silver, Jeremy D. ; Pers, Tune H. ; Nielsen, John E. ; Jorgensen, Niels ; Juul, Anders ; Gerds, Thomas A. and Giwercman, Aleksander ^LU , et al. (2012) In Journal of Medical Genetics 49(1). p.58-65
- Contribution to journal › Article
Mark Prostate cancer risk assessment model: a scoring model based on the Swedish Family-Cancer Database
Roudgari, Hassan ; Hemminki, Kari ^LU ; Brandt, Andreas ; Sundquist, Jan ^LU and Fallah, Mahdi (2012) In Journal of Medical Genetics 49(5). p.345-352
- Contribution to journal › Article
Mark Closing the case of APOE in multiple sclerosis : no association with disease risk in over 29 000 subjects
Lill, Christina M ; Liu, Tian ; Schjeide, Brit-Maren M ; Roehr, Johannes T ; Akkad, Denis A ; Damotte, Vincent ; Alcina, Antonio ; Ortiz, Miguel A ; Arroyo, Rafa and Lopez de Lapuente, Aitzkoa ^LU , et al. (2012) In Journal of Medical Genetics 49(9). p.62-558
- Contribution to journal › Article
2008
Mark Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation
Osoegawa, K. ; Vessere, G. M. ; Utami, K. H. ; Mansilla, M. A. ; Johnson, M. K. ; Riley, B. M. ; L'Heureux, J. ; Pfundt, R. ; Staaf, Johan ^LU and van der Vliet, W. A. , et al. (2008) In Journal of Medical Genetics 45(2). p.81-86
- Contribution to journal › Article
Mark A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome
Clendenning, M ; Senter, L ; Hampel, H ; Lagerstedt Robinson, K ; Sun, S ; Buchanan, D ; Walsh, M D ; Nilbert, Mef ^LU ; Green, J and Potter, J , et al. (2008) In Journal of Medical Genetics 45(6). p.340-345
- Contribution to journal › Article
2007
Mark Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents
Goldstein, Alisa M ; Chan, May ; Harland, Mark ; Hayward, Nicholas K ; Demenais, Florence ; Bishop, D Timothy ; Azizi, Esther ; Bergman, Wilma ; Bianchi-Scarra, Giovanna and Bruno, William , et al. (2007) In Journal of Medical Genetics 44(2). p.99-106
- Contribution to journal › Article
Mark Germline E-cadherin mutations in familial lobular breast cancer
Masciari, S. ; Larsson, Nina ^LU ; Senz, J. ; Boyd, N. ; Kaurah, P. ; Kandel, M. J. ; Harris, L. N. ; Pinheiro, H. C. ; Troussard, A. and Miron, P. , et al. (2007) In Journal of Medical Genetics 44(11). p.726-731
- Contribution to journal › Article

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