1 – 10 of 11
- show: 10
- |
- sort: year (new to old)
Close
Embed this list
<iframe src=" "
width=" "
height=" "
allowtransparency="true"
frameborder="0">
</iframe>
- 2022
-
Mark
A novel phenotype associated with the R162W variant in the KCNJ13 gene
(
- Contribution to journal › Article
- 2021
-
Mark
Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene
(
- Contribution to journal › Article
-
Mark
Poretti-Boltshauser syndrome : a rare differential diagnosis to consider in pediatric high myopia with retinal degeneration
(
- Contribution to journal › Letter
-
Mark
Clinical spectrum, genetic associations and management outcomes of Coats-like exudative retinal vasculopathy in autosomal recessive retinitis pigmentosa
(
- Contribution to journal › Article
- 2020
-
Mark
Long-term resolution of chronic macular edema after a single dose of intravitreal dexamethasone in familial retinal arterial macroaneurysm
(
- Contribution to journal › Letter
- 2019
-
Mark
Non-syndromic retinal dystrophy associated with homozygous mutations in the ALMS1 gene
(
- Contribution to journal › Letter
-
Mark
A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa
(
- Contribution to journal › Article
-
Mark
Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene
(
- Contribution to journal › Article
- 2018
-
Mark
Novel causative variants in patients with achromatopsia
(
- Contribution to journal › Article
-
Mark
Congenital stationary night blindness associated with morning glory disc malformation : a novel hemizygous mutation in CACNA1F
(
- Contribution to journal › Letter