Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing - Camparini, Monica; Rinaldi, Chiara; Ciardella, Antonio; Balducci, Nicole; Tranchina, Antonia; Cavallini, Gian Maria; Pietrangelo, Antonello; Marigo, Valeria; Tagliafico, Enrico; Manfredini, Rossella; Simone, Maria Luisa; Artusi, Valentina; et al. (BioMed research international, 2016)
Keywords: Academic libraries; Adolescent; Adult; Aged; Aged, 80 and over; Child; Child, Preschool; Colleges & universities; Congenital diseases; Design; Disease; Epigenetic inheritance; Eye Proteins - genetics; Female; Genes; Genetic aspects; Genetic counseling; Genetic Counseling - methods; Genetics; Genomes; Genotype; Genotype & phenotype; Health aspects; High-Throughput Nucleotide Sequencing - methods; Hospitals; Humans; Male; Middle Aged; Molecular diagnostic techniques; Mutation; Mutation - genetics; Pathology, Molecular - methods; Pedigree; Retinal diseases; Retinal Dystrophies - genetics; Retinitis Pigmentosa - genetics; Young Adult