Genetics in Medicine, 1098-3600

Tidskrift

Fler filtreringsmöjligheter
  1. 2019
  2. Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition

    Swedish Extended Genetic Analysis of Colorectal Neoplasia (SWEN) Study Group, Olkinuora, A., Nieminen, T. T., Mårtensson, E., Anna Rohlin, Ristimäki, A., Koskenvuo, L., Lepistö, A., Samuel Gebre-Medhin, Nordling, M. & Peltomäki, P., 2019, I : Genetics in Medicine. 21, 8, s. 1868-1873

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  3. Sharing data for future research—engaging participants’ views about data governance beyond the original project: a DIRECT Study

    Shah, N., Coathup, V., Teare, H., Forgie, I., Giuseppe Nicola Giordano, Hansen, T. H., Groeneveld, L., Hudson, M., Pearson, E., Ruetten, H. & Kaye, J., 2019, I : Genetics in Medicine. 21, 5, s. 1131-1138

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  4. 2018
  5. Phenocopies in melanoma-prone families with germ-line CDKN2A mutations

    Helgadottir, H., Håkan Olsson, Tucker, M. A., Yang, X. R., Höiom, V. & Goldstein, A. M., 2018 sep 1, I : Genetics in Medicine. 20, 9, s. 1087-1090 4 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  6. PREPL deficiency: Delineation of the phenotype and development of a functional blood assay

    Régal, L., Mårtensson, E., Maystadt, I., Voermans, N., Lederer, D., Burlina, A., Juan Fita, M. J., Hoogeboom, A. J. M., Olsson Engman, M., Hollemans, T., Schouten, M., Meulemans, S., Tord Jonson, François, I., Gil Ortega, D., Kamsteeg, E. J. & Creemers, J. W. M., 2018 jan 1, I : Genetics in Medicine. 20, 1, s. 109-118 10 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  7. Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility

    Catucci, I., Osorio, A., Arver, B., Neidhardt, G., Bogliolo, M., Zanardi, F., Riboni, M., Minardi, S., Pujol, R., Azzollini, J., Peissel, B., Manoukian, S., De Vecchi, G., Casola, S., Hauke, J., Richters, L., Rhiem, K., Schmutzler, R. K., Wallander, K., Törngren, T. & 8 andraÅke Borg, Radice, P., Surrallés, J., Hahnen, E., Hans Ehrencrona, Anders Kvist, Benitez, J. & Peterlongo, P., 2018, I : Genetics in Medicine. 20, s. 452–457 6 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  8. 2009
  9. Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project.

    Cotton, R. G. H., Al Aqeel, A. I., Al-Mulla, F., Carrera, P., Claustres, M., Ekong, R., Hyland, V. J., Macrae, F. A., Marafie, M. J., Paalman, M. H., Patrinos, G. P., Qi, M., Ramesar, R. S., Scott, R. J., Sijmons, R. H., Sobrido, M-J. & Mauno Vihinen, 2009, I : Genetics in Medicine. 11, 12, s. 843-849

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  10. 2008
  11. Assessing educational priorities in genetics for general practitioners and specialists in five countries: factor structure of the Genetic-Educational Priorities (Gen-EP) scale

    Calefato, J-M., Nippert, I., Harris, H. J., Ulf Kristoffersson, Schmidtke, J., Ten Kate, L. P., Anionwu, E., Benjamin, C., Challen, K., Plass, A-M., Harris, R. & Julian-Reynier, C., 2008, I : Genetics in Medicine. 10, 2, s. 99-106

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  12. Genetics in clinical practice: general practitioners' educational priorities in European countries

    Julian-Reynier, C., Nippert, I., Calefato, J-M., Harris, H., Ulf Kristoffersson, Schmidtke, J., Ten Kate, L., Anionwu, E., Benjamin, C., Challen, K., Plass, A-M. & Harris, R., 2008, I : Genetics in Medicine. 10, 2, s. 107-113

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  13. 2006
  14. Familial risks of aortic aneurysms among siblings in a nationwide Swedish study

    Kari Hemminki, Xinjun Li, Sven-Erik Johansson, Kristina Sundquist & Jan Sundquist, 2006 jan, I : Genetics in Medicine. 8, 1, s. 43-49 7 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  15. 2005
  16. Genetic education and nongenetic health professionals: Educational providers and curricula in Europe.

    Challen, K., Harris, H., Julian-Reynier, C., Ten Kate, L., Ulf Kristoffersson, Nippert, I., Schmidtke, J., Benjamin, C. & Harris, R., 2005, I : Genetics in Medicine. 7, 5, s. 302-310

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  17. 2001
  18. Issues in Human GenEthics

    Saraiva, J. M., Anionwu, E., Belo, M., Jenkins, T., Ulf Kristoffersson, Marques, I., Santos, H. G., Sequerio, J., Simpson, S. A., Wertz, D. & Montenerio, C., 2001, I : Genetics in Medicine. 3, 3, s. 218

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift