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- 1998
-
Mark
Gör balansprov på alla döva småbarn! : Tidig upptäckt av Ushers syndrom ökar möjligheterna till kommunikation vid senare dövblindhet
- Contribution to journal › Article
- 1997
-
Mark
Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene
Andréasson, Sten LU ; Ponjavic, Vesna LU ; Abrahamson, Magnus LU
; Ehinger, Berndt
LU
; Wu, W
; Fujita, R
; Buraczynska, M
and Swaroop, A
(1997)
In American Journal of Ophthalmology
124(1).
p.95-102
- Contribution to journal › Article
-
Mark
A mild phenotype of autosomal dominant retinitis pigmentosa is associated with the rhodopsin mutation Pro-267–Leu
Ponjavic, Vesna LU ; Abrahamson, Magnus LU
; Andréasson, Sten
LU
; Ehinger, Berndt
LU
; Fex, Göran
and Polland, W
(1997)
In Ophthalmic Genetics
18(2).
p.63-70
- Contribution to journal › Article
-
Mark
Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: Paucity of mutations in the coding region, but splice defects in two families
Fujita, Ricardo ; Buraczynska, Monika ; Gieser, Linn ; Wu, Weiping ; Forsythe, Patricia ; Abrahamson, Magnus LU
; Jacobsson, Samuel G
; Sieving, Paul A
; Andréasson, Sten
LU
and Swaroop, Anand
(1997)
In American Journal of Human Genetics
61(3).
p.571-580
- Contribution to journal › Article
-
Mark
Autosomal dominant retinitis pigmentosa with a rhodopsin mutation (Arg-135–Trp): Disease phenotype in a Swedish family
Ponjavic, Vesna LU ; Abrahamson, Magnus LU
; Andréasson, Sten
LU
; Ehinger, Berndt
LU
and Fex, G
(1997)
In Acta Ophthalmologica Scandinavica
75(2).
p.218-223
- Contribution to journal › Article
- 1995
-
Mark
Phenotype variation within a choroideremia family lacking the entire CHM gene
Ponjavic, Vesna LU ; Abrahamson, Magnus LU
; Andréasson, Sten
LU
; van Bokhoven, Hans
; Cremers, Frans P M
; Ehinger, Berndt
LU
and Fex, Göran
(1995)
In Ophthalmic Genetics
16(4).
p.143-150
- Contribution to journal › Article
- 1992
-
Mark
A six generation family with autosomal dominant retinitis pigmentosa and a rhodopsin gene mutation (arginine-135–leucine)
Andréasson, Sten LU ; Ehinger, Berndt LU
; Abrahamson, Magnus
LU
and Fex, G
(1992)
In Ophthalmic Paediatrics and Genetics
13(3).
p.145-153
- Contribution to journal › Article