The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy
The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy
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The landscape of submicroscopic structural variants at the
The landscape of submicroscopic structural variants at the
The ERNs respond to the Ukrainian crisis_Lancet Regional Health 2022
The ERNs respond to the Ukrainian crisis_Lancet Regional Health 2022
Reccomendations for whole genome sequencing in diagnostics for rare diseases
Reccomendations for whole genome sequencing in diagnostics for rare diseases
Petzold2022OpticNeuritis
Petzold2022OpticNeuritis
Personalized genetic conseling for Stargardt disease Offspring risk estimates based on variant severity
Personalized genetic conseling for Stargardt disease Offspring risk estimates based on variant severity
Outcome of Cataract surgery in patients with Retinitis Pigmentosa
Outcome of Cataract surgery in patients with Retinitis Pigmentosa
Optic nerve involvement in CACNA1F related disease observations from a multicentric case series
Optic nerve involvement in CACNA1F related disease observations from a multicentric case series
Novel OPN1LWOPN1MW Exon 3 Haplotype-Associated
Novel OPN1LWOPN1MW Exon 3 Haplotype-Associated
Novel Clinical Observations and Genetic Spectrum
Novel Clinical Observations and Genetic Spectrum