Clinical Genetics, 0009-9163

Tidskrift

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

    Pedram Kharaziha, Sophia Ceder, Olga Axell, Moritz Krall, Omid Fotouhi, Stefanie Böhm, Sonia Lain, Åke Borg, Catharina Larsson, Klas G. Wiman, Emma Tham & Svetlana Bajalica-Lagercrantz, 2019, I: Clinical Genetics. 96, 3, s. 216-225

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  3. 2018
  4. How do consent forms for diagnostic high-throughput sequencing address unsolicited and secondary findings? A content analysis

    D. F. Vears, E. Niemiec, H. C. Howard & P. Borry, 2018 okt, I: Clinical Genetics. 94, 3-4, s. 321-329

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  5. Enrichment of rare copy number variation in children with developmental language disorder

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

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

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

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

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

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Wilhelm A A Christaller, Yvonne Vos, Samuel Gebre-Medhin, Robert M W Hofstra & Michael K E Schäfer, 2016, I: Clinical Genetics.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Annika Mårtensson, Sten Ivarsson, Anna Letelier, Eric Manderstedt, Christer Halldén & Rolf Ljung, 2016, I: Clinical Genetics. 90, 1, s. 63-68

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

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

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Marcus Broman, Isabel Kleinschnitz, Elisa J Bach, Simone Rost, Gunilla Islander & Clemens R Müller, 2015, I: Clinical Genetics. 88, 4, s. 381-385

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

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

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Josef Davidsson, Anna Collin, Maria Oereberg & David Gisselsson Nord, 2008, I: Clinical Genetics. 73, 1, s. 44-49

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

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

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Maria Björkqvist, Åsa Petersén, J Nielsen, D Ecker, Hindrik Mulder, Mr Hayden, B Landwehrmeyer, Patrik Brundin & Br Leavitt, 2006, I: Clinical Genetics. 70, 1, s. 78-79

    Forskningsoutput: TidskriftsbidragLetter

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

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

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Ulf Ekström, Magnus Abrahamson, Claes-Henrik Florén, H Tollig, Göran GWE Wettrell, Gerd Nilsson, X M Sun, A K Soutar & Peter Nilsson-Ehle, 1999, I: Clinical Genetics. 55, 5, s. 332-339

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

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

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

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

    Forskningsoutput: TidskriftsbidragLetter

  30. 1994
  31. Associations of genotypes at the apolipoprotein AI-CIII-AIV, apolipoprotein B and lipoprotein lipase gene loci with coronary atherosclerosis and high density lipoprotein subclasses

    Rachel E Peacock, Anders Hamsten, Jan Johansson, Peter Nilsson-Ehle & Steve E Humphries, 1994, I: Clinical Genetics. 46, 4, s. 273-282

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

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

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  34. 1982
  35. Haemophilia A and B--two years experience of genetic counselling and prenatal diagnosis

    R Ljung, Lars Holmberg, B Gustavii, J Philip & J Bang, 1982 aug, I: Clinical Genetics. 22, 2, s. 70-75

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

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

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift