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Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice
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An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients
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- Journal Article
- A1
- open access
Hidden genetic variation in LCA9-associated congenital blindness explained by 5′UTR mutations and copy-number variations of NMNAT1
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Mutations in IMPG1 cause vitelliform macular dystrophies
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- Journal Article
- A1
- open access
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy
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Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy
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- Journal Article
- A1
- open access
Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II
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IQCB1 Mutations in Patients with Leber Congenital Amaurosis
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Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation
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- Journal Article
- A1
- open access
FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome