Contact information
Research groups
Saoud Al-Khuzaei
DPhil Student
Recent publications
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The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene.
Journal article
Hahn LC. et al, (2022), Ophthalmol Retina
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An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story
Journal article
Al-Khuzaei S. et al, (2021), Genes, 12, 1241 - 1241
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Genotype-phenotype correlation of novel variants in ABCA4
Conference paper
Al-khuzaei S. et al, (2021), INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 62
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Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report.
Journal article
Al-Khuzaei S. et al, (2021), BMC Ophthalmol, 21
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Clinical and genetic spectrum of patients with GUCY2D-associated retinal dystrophies
Conference paper
Hahn LC. et al, (2021), ACTA OPHTHALMOLOGICA, 99, 39 - 40