Associated Papers
Liver Fibrosis and Steatosis in Alström Syndrome: A Genetic Model for Metabolic Syndrome.
Bettini S et al.
Diagnostics (basel, Switzerland), 2021
Neurocognitive assessment and DNA sequencing expand the phenotype and genotype spectrum of Alström syndrome.
Dassie F et al.
American Journal of Medical Genetics. Part A, 2021
Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene.
Nasser F et al.
Acta Ophthalmologica, 2018
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
Weisschuh N et al.
Plos One, 2016
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