Ophthalmic Genetics, 1744-5094

Tidskrift

Fler filtreringsmöjligheter
  1. 2019
  2. A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa

    Peter, V. G., Nikopoulos, K., Quinodoz, M., Granse, L., Farinelli, P., Superti-Furga, A., Sten Andréasson & Rivolta, C., 2019 apr 23, I : Ophthalmic Genetics.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  3. 2018
  4. Non-syndromic retinal dystrophy associated with homozygous mutations in the ALMS1 gene

    Aldrees, A., Abdelkader, E., Al-Habboubi, H., Alrwebah, H., Rahbeeni, Z. & Schatz, P., 2018 nov 29, I : Ophthalmic Genetics.

    Forskningsoutput: TidskriftsbidragLetter

  5. Novel causative variants in patients with achromatopsia

    Abdelkader, E., Brandau, O., Bergmann, C., AlSalamah, N., Nowilaty, S. & Schatz, P., 2018 nov 2, I : Ophthalmic Genetics. 39, 6, s. 678-683

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  6. 2017
  7. Multimodal imaging in CABP4-related retinopathy

    Schatz, P., Elsayed, M. E. A. A. & Khan, A. O., 2017, I : Ophthalmic Genetics. 38, 5, s. 459-464 6 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  8. 2014
  9. Genotype-phenotype Correlations, and Retinal Function and Structure in von Hippel-Lindau Disease.

    Wittström, E., Nordling, M. & Sten Andréasson, 2014, I : Ophthalmic Genetics. 35, 2, s. 91-106

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  10. 2011
  11. Anterior Segment Abnormalities and Angle-Closure Glaucoma in a Family with a Mutation in the BEST1 Gene and Best Vitelliform Macular Dystrophy.

    Wittström, E., Ponjavic, V., Bondeson, M-L. & Sten Andréasson, 2011, I : Ophthalmic Genetics. 32, s. 217-227

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  12. Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1.

    Wittström, E., Ekvall, S., Schatz, P., Bondeson, M-L., Ponjavic, V. & Sten Andréasson, 2011, I : Ophthalmic Genetics. 32, s. 83-96

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  13. Phenotypes in Defined Genotypes Including Siblings with Usher Syndrome.

    Malm, E., Ponjavic, V., Möller, C., Kimberling, W. J. & Sten Andréasson, 2011, I : Ophthalmic Genetics. 32, s. 65-74

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  14. Ubiquitin Carboxyl-Terminal Esterase L1 (UCHL1) S18Y Polymorphism In Patients With Cataracts

    Rudolph, T., Sjolander, A., Palmer, M. S., Lennart Minthon, Wallin, A., Andreasen, N., Tasa, G., Juronen, E., Blennow, K., Zetterberg, H. & Zetterberg, M., 2011, I : Ophthalmic Genetics. 32, 2, s. 75-79

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  15. 2010
  16. Long-term 12 year follow-up of X-linked congenital retinoschisis.

    Kjellström, S., Vijayasarathy, C., Ponjavic, V., Sieving, P. & Sten Andréasson, 2010, I : Ophthalmic Genetics. Jul 1, s. 114-125

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  17. 2009
  18. Macular Dysfunction and Morphology in Spinocerebellar Ataxia Type 7 (SCA 7)

    Therése Hugosson, Gränse, L., Ponjavic, V. & Sten Andréasson, 2009, I : Ophthalmic Genetics. 30, 1, s. 1-6

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  19. 2006
  20. Variant Phenotype of Best Vitelliform Macular Dystrophy Associated with Compound Heterozygous Mutations in VMD2.

    Schatz, P., Klar, J., Sten Andréasson, Ponjavic, V. & Dahl, N., 2006, I : Ophthalmic Genetics. 27, 2, s. 51-56

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  21. 2005
  22. Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene.

    Schatz, P., Ponjavic, V., Sten Andréasson, McGee, T. L., Dryja, T. P. & Magnus Abrahamson, 2005, I : Ophthalmic Genetics. 26, 3, s. 119-24

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  23. 2003
  24. Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes

    Sten Andréasson, Breuer, D. K., Louise Eksandh, Ponjavic, V., Frennesson, C., Hiriyanna, S., Filippova, E., Yashar, B. M. & Swaroop, A., 2003, I : Ophthalmic Genetics. 24, 4, s. 215-223

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  25. Electrophysiology and ocular blood flow in a family with dominant optic nerve atrophy and a mutation in the OPA1 gene

    Gränse, L., C-Bergstrand, I., Thiselton, D., Ponjavic, V., Anders Heijl, Votruba, M. & Sten Andréasson, 2003, I : Ophthalmic Genetics. 24, 4, s. 233-245

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  26. 2002
  27. Clinical features of achromatopsia in Swedish patients with defined genotypes.

    Louise Eksandh, Kohl, S. & Wissinger, B., 2002, I : Ophthalmic Genetics. 23, 2, s. 109-20

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  28. 2001
  29. Electrophysiologic findings in two young patients with Bothnia dystrophy and a mutation in the RLBP1 gene

    Gränse, L., Magnus Abrahamson, Ponjavic, V. & Sten Andréasson, 2001, I : Ophthalmic Genetics. 22, 2, s. 97-105

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  30. 1998
  31. Clinical expression of X-linked retinitis pigmentosa in a Swedish family with the RP2 genotype

    Ponjavic, V., Sten Andréasson, Magnus Abrahamson, Berndt Ehinger, Gieser, L., Fujita, R. & Swaroop, A., 1998, I : Ophthalmic Genetics. 19, 4, s. 187-196

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  32. 1997
  33. A mild phenotype of autosomal dominant retinitis pigmentosa is associated with the rhodopsin mutation Pro-267–Leu

    Ponjavic, V., Magnus Abrahamson, Sten Andréasson, Berndt Ehinger, Fex, G. & Polland, W., 1997, I : Ophthalmic Genetics. 18, 2, s. 63-70

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  34. 1995
  35. Phenotype variation within a choroideremia family lacking the entire CHM gene

    Ponjavic, V., Magnus Abrahamson, Sten Andréasson, van Bokhoven, H., Cremers, F. P. M., Berndt Ehinger & Fex, G., 1995, I : Ophthalmic Genetics. 16, 4, s. 143-150

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  36. 1992