Associated Papers
Phenotypic and Genetic Heterogeneity of a Pakistani Cohort of 15 Consanguineous Families Segregating Variants in Leber Congenital Amaurosis-Associated Genes.
Akhtar Z et al.
Genes, 2024
Clinical exome sequencing facilitates the understanding of genetic heterogeneity in Leber congenital amaurosis patients with variable phenotype in southern India.
Viswarubhiny S et al.
Eye and Vision (london, England), 2021
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.
Hengel H et al.
European Journal of Human Genetics : Ejhg, 2020
Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity.
Tajiguli A et al.
Scientific Reports, 2016
Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.
Beryozkin A et al.
Investigative Ophthalmology & Visual Science, 2014
Select a paper to view details