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Documenta Ophthalmologica. Advances in Ophthalmology
|
March 9, 2006
Is optic nerve fibre mis-routing a feature of congenital stationary night blindness?
T Ung, L E Allen, A T Moore, et al.
The Quarterly Journal of Medicine
|
November 1, 1990
Clinical features and natural history of von Hippel-Lindau disease
E R Maher, J R Yates, R Harries, et al.
The British Journal of Ophthalmology
|
January 25, 2005
Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 gene
P K F Addison, V Berry, A C W Ionides, et al.
Eye (London, England)
|
February 1, 2014
A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene
R Mukherjee, A G Robson, G E Holder, et al.
Journal of Medical Genetics
|
June 7, 2005
X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients
D Pimenides, N D L George, J R W Yates, et al.
Klinische Monatsblatter Fur Augenheilkunde
|
May 27, 2004
Juvenile neuronal ceroid lipofuscinosis (Batten disease) CLN3 mutation (Chrom 16p11.2) with different phenotypes in a sibling pair and low intensity in vivo autofluorescence
I Mantel, M A Brantley, C Bellmann, et al.
Eye (London, England)
|
April 20, 2004
Blue cone monochromatism: a phenotype and genotype assessment with evidence of progressive loss of cone function in older individuals
M Michaelides, S Johnson, M P Simunovic, et al.
Journal of Medical Genetics
|
September 11, 1998
A new dominant retinitis pigmentosa family mapping to the RP18 locus on chromosome 1q11-21
C F Inglehearn, E E Tarttelin, T J Keen, et al.
Journal of Medical Genetics
|
April 1, 1996
Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations
E R Maher, A R Webster, F M Richards, et al.
Journal of Medical Genetics
|
February 6, 2004
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3
S Johnson, M Michaelides, I A Aligianis, et al.
Page
of 15
Search research articles
Search
Showing results (101-110 of 148) with videos related to
Sort By:
Page
of 15
Documenta Ophthalmologica. Advances in Ophthalmology
|
March 9, 2006
Is optic nerve fibre mis-routing a feature of congenital stationary night blindness?
T Ung, L E Allen, A T Moore, et al.
The Quarterly Journal of Medicine
|
November 1, 1990
Clinical features and natural history of von Hippel-Lindau disease
E R Maher, J R Yates, R Harries, et al.
The British Journal of Ophthalmology
|
January 25, 2005
Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 gene
P K F Addison, V Berry, A C W Ionides, et al.
Eye (London, England)
|
February 1, 2014
A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene
R Mukherjee, A G Robson, G E Holder, et al.
Journal of Medical Genetics
|
June 7, 2005
X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients
D Pimenides, N D L George, J R W Yates, et al.
Klinische Monatsblatter Fur Augenheilkunde
|
May 27, 2004
Juvenile neuronal ceroid lipofuscinosis (Batten disease) CLN3 mutation (Chrom 16p11.2) with different phenotypes in a sibling pair and low intensity in vivo autofluorescence
I Mantel, M A Brantley, C Bellmann, et al.
Eye (London, England)
|
April 20, 2004
Blue cone monochromatism: a phenotype and genotype assessment with evidence of progressive loss of cone function in older individuals
M Michaelides, S Johnson, M P Simunovic, et al.
Journal of Medical Genetics
|
September 11, 1998
A new dominant retinitis pigmentosa family mapping to the RP18 locus on chromosome 1q11-21
C F Inglehearn, E E Tarttelin, T J Keen, et al.
Journal of Medical Genetics
|
April 1, 1996
Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations
E R Maher, A R Webster, F M Richards, et al.
Journal of Medical Genetics
|
February 6, 2004
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3
S Johnson, M Michaelides, I A Aligianis, et al.
Page
of 15