Clinical Genetics, 0009-9163

Tidskrift

Fler filtreringsmöjligheter
  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, I : Clinical Genetics. 96, 3, s. 216-225

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  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, I : Clinical Genetics. 94, 3-4, s. 313-320 8 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  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, I : Clinical Genetics. 93, 3, s. 595-602

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  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, I : Clinical Genetics. 91, 3, s. 482-487

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  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, I : Clinical Genetics.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  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, I : Clinical Genetics. 90, 1, s. 63-68

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  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 andra, Gerdes, A. -M., Brown, K. M., Scolyer, R. A. & Hayward, N. K., 2015, I : Clinical Genetics. 88, 3, s. 267-272

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  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, I : Clinical Genetics. 88, 4, s. 381-385

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  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, I : Clinical Genetics. 83, 3, s. 279-283

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  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, I : Clinical Genetics. 73, 1, s. 44-49

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  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, I : Clinical Genetics. 74, 1, s. 31-38

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  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, I : Clinical Genetics. 70, 1, s. 78-79

    Forskningsoutput: TidskriftsbidragLetter

  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, I : Clinical Genetics. 65, 4, s. 267-277

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  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, I : Clinical Genetics. 55, 5, s. 332-339

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

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

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  27. 1998
  28. No association between the androgen receptor gene CAG repeat and impaired sperm production in Swedish men [1]

    Y. L. Giwercman, Xu, C., Arver, S., Pousette, A., Reneland, R., Lithell, H. & Wedell, A., 1998 nov 14, I : Clinical Genetics. 54, 5, s. 435-436 2 s.

    Forskningsoutput: TidskriftsbidragLetter

  29. 1994
  30. 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, I : Clinical Genetics. 46, 4, s. 273-282

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  31. 1987
  32. How do carriers of hemophilia experience prenatal diagnosis by fetal blood sampling?

    R Ljung, U Tedgård, McNeil, T. & EVA LANDEGREN TEDGÅRD, 1987 maj, I : Clinical Genetics. 31, 5, s. 297-302

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  33. 1982
  34. 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, I : Clinical Genetics. 22, 2, s. 70-75

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  35. 1979
  36. Fanconi's anaemia associated with haemophilia A

    R Ljung, Lars Holmberg, Nilsson, K. O. & Thilén, A., 1979 nov, I : Clinical Genetics. 16, 5, s. 364-8 5 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift