• 8q12.1q12.3 de novo microdeletion involving the CHD7 gene in a patient without the major features of CHARGE syndrome: case report and critical review of the literature
• A case of Oliver-McFarlane syndrome caused by PNPLA6 gene mutation
• Basolateral Mg2+ extrusion via CNNM4 mediates transcellular Mg2+ transport across epithelia: a mouse model
• Cone-rod congenital amaurosis associated with congenital hypertrichosis: an autosomal recessive condition
• Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs
• Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1
• Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 gene
• Dermatological adverse effects of anti-glaucoma eye drops: a review
• Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms
• How latanoprost changed glaucoma management
• Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America
• Oliver-McFarlane syndrome in a chinese boy: retinitis pigmentosa, trichomegaly, hair anomalies and mental retardation
• Topical medication instillation techniques for glaucoma