Clinical Genetics, 0009-9163

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  1. 2019
  2. Functional characterization of novel germline TP53 variants in Swedish families

    Kharaziha, P., Ceder, S., Axell, O., Krall, M., Fotouhi, O., Böhm, S., Lain, S., Åke Borg, Larsson, C., Wiman, K. G., Tham, E. & Bajalica-Lagercrantz, S., 2019 May 12, In : Clinical Genetics.

    Research output: Contribution to journalArticle

  3. 2018
  4. Enrichment of rare copy number variation in children with developmental language disorder

    N. Kalnak, Stamouli, S., Peyrard-Janvid, M., Rabkina, I., Becker, M., Klingberg, T., Kere, J., Forssberg, H. & Tammimies, K., 2018, In : Clinical Genetics. 94, 3-4, p. 313-320 8 p.

    Research output: Contribution to journalArticle

  5. Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication

    Pelttari, L. M., Shimelis, H., Toiminen, H., A. Kvist, T. Törngren, A. Borg, Blomqvist, C., Bützow, R., Couch, F., Aittomäki, K. & Nevanlinna, H., 2018, In : Clinical Genetics. 93, 3, p. 595-602

    Research output: Contribution to journalArticle

  6. 2017
  7. Haplotype analysis reveals that the recurrent BRCA1 deletion of exons 23 and 24 is a Greek founder mutation

    Apostolou, P., M. Pertesi, Aleporou-Marinou, V., Dimitrakakis, C., Papadimitriou, C., Razis, E., Christodoulou, C., Fountzilas, G., Yannoukakos, D., Konstantopoulou, I. & Fostira, F., 2017, In : Clinical Genetics. 91, 3, p. 482-487

    Research output: Contribution to journalArticle

  8. 2016
  9. L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains.

    Christaller, W. A. A., Vos, Y., Samuel Gebre-Medhin, Hofstra, R. M. W. & Schäfer, M. K. E., 2016, In : Clinical Genetics.

    Research output: Contribution to journalArticle

  10. Origin of mutation in sporadic cases of severe haemophilia A in Sweden.

    Annika Mårtensson, Sten Ivarsson, Letelier, A., Manderstedt, E., Halldén, C. & Rolf Ljung, 2016, In : Clinical Genetics. 90, 1, p. 63-68

    Research output: Contribution to journalArticle

  11. 2015
  12. A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma

    Wadt, K. A. W., Aoude, L. G., Johansson, P., Solinas, A., Pritchard, A., Crainic, O., Andersen, M. T., Kiilgaard, J. F., Heegaard, S., Sunde, L., Federspiel, B., Madore, J., Thompson, J. F., McCarthy, S. W., Goodwin, A., Tsao, H., Jönsson, G. B., Busam, K., Gupta, R., Trent, J. M. & 4 othersGerdes, A. -M., Brown, K. M., Scolyer, R. A. & Hayward, N. K., 2015, In : Clinical Genetics. 88, 3, p. 267-272

    Research output: Contribution to journalArticle

  13. Next generation DNA sequencing of a Swedish Malignant Hyperthermia cohort.

    Broman, M., Kleinschnitz, I., Bach, E. J., Rost, S., Gunilla Islander & Müller, C. R., 2015, In : Clinical Genetics. 88, 4, p. 381-385

    Research output: Contribution to journalArticle

  14. 2013
  15. Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease

    Lindquist, SG., Duno, M., Batbayli, M., Andreas Puschmann, Braendgaard, H., Mardosiene, S., Svenstrup, K., Pinborg, LH., Vestergaard, K., Hjermind, LE., Stokholm, J., Andersen, BB., Johannsen, P. & Nielsen, J., 2013, In : Clinical Genetics. 83, 3, p. 279-283

    Research output: Contribution to journalArticle

  16. 2008
  17. Array-based genotype-phenotype correlation in a case of supernumerary ring chromosome 12

    Josef Davidsson, Collin, A., Oereberg, M. & David Gisselsson Nord, 2008, In : Clinical Genetics. 73, 1, p. 44-49

    Research output: Contribution to journalArticle

  18. CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome

    Wincent, J., Holmberg, E., Stromland, K., Soller, M., Mirzaei, L., Djureinovic, T., Robinson, K. L., Anderlid, B. M. & Schoumans, J., 2008, In : Clinical Genetics. 74, 1, p. 31-38

    Research output: Contribution to journalArticle

  19. 2006
  20. Cerebrospinal fluid levels of orexin-A are not a clinically useful biomarker for Huntington disease.

    Maria Björkqvist, Åsa Petersén, Nielsen, J., Ecker, D., Hindrik Mulder, Hayden, M., Landwehrmeyer, B., Brundin, P. & Leavitt, B., 2006, In : Clinical Genetics. 70, 1, p. 78-79

    Research output: Contribution to journalLetter

  21. 2004
  22. A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length.

    Langbehn, D., Brinkman, R., Falush, D., Paulsen, J., Hayden, M., Landberg, I., Ulf Kristoffersson & International Huntington's Disease, C. G., 2004, In : Clinical Genetics. 65, 4, p. 267-277

    Research output: Contribution to journalArticle

  23. 2003
  24. 1999
  25. An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F)

    Ulf Ekström, Magnus Abrahamson, Florén, C-H., Tollig, H., Wettrell, G. GWE., Nilsson, G., Sun, X. M., Soutar, A. K. & Peter Nilsson-Ehle, 1999, In : Clinical Genetics. 55, 5, p. 332-339

    Research output: Contribution to journalArticle

  26. How do carriers of hemophilia and their spouses experience prenatal diagnosis by chorionic villus sampling?

    Ulf Tedgård, R. Ljung & McNeil, T. F., 1999, In : Clinical Genetics. 55, 1, p. 26-33 8 p.

    Research output: Contribution to journalArticle

  27. 1994
  28. Associations of genotypes at the apolipoprotein AI-CIII-AIV, apolipoprotein B and lipoprotein lipase gene loci with coronary atherosclerosis and high density lipoprotein subclasses

    Peacock, R. E., Hamsten, A., Johansson, J., Peter Nilsson-Ehle & Humphries, S. E., 1994, In : Clinical Genetics. 46, 4, p. 273-282

    Research output: Contribution to journalArticle

  29. 1987
  30. How do carriers of hemophilia experience prenatal diagnosis by fetal blood sampling?

    R Ljung, U Tedgård, McNeil, T. & EVA LANDEGREN TEDGÅRD, 1987 May, In : Clinical Genetics. 31, 5, p. 297-302

    Research output: Contribution to journalArticle

  31. 1982
  32. Haemophilia A and B--two years experience of genetic counselling and prenatal diagnosis

    R Ljung, Lars Holmberg, Gustavii, B., Philip, J. & Bang, J., 1982 Aug, In : Clinical Genetics. 22, 2, p. 70-75

    Research output: Contribution to journalArticle

  33. 1979
  34. Fanconi's anaemia associated with haemophilia A

    R Ljung, Lars Holmberg, Nilsson, K. O. & Thilén, A., 1979 Nov, In : Clinical Genetics. 16, 5, p. 364-8 5 p.

    Research output: Contribution to journalArticle