Associated Papers
Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients.
Bea-Mascato B et al.
Genes, 2021
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.
Sanchez-Navarro I et al.
Scientific Reports, 2018
Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.
Lazar CH et al.
Human Mutation, 2015
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.
Wang H et al.
Investigative Ophthalmology & Visual Science, 2015
Select a paper to view details