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Journal Article
Journal Article
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 13312 - 12
Inherited Retinal Dystrophies are clinically and genetically heterogeneous disorders affecting the photoreceptors. Although NGS has shown to be helpful for the... 
POPULATION | DEEP-INTRONIC MUTATION | TRANSPORTER GENE | MULTIDISCIPLINARY SCIENCES | DISEASE | HIGH-FREQUENCY | PHENOTYPE | COPY-NUMBER VARIATIONS | GENOME | DOMINANT RETINITIS-PIGMENTOSA | DEGENERATION | USH2A protein | Clonal deletion | Exons | Genes | Retina | Photoreceptors | Diagnosis | Mutation
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 05/2019, Volume 40, Issue 3, pp. 288 - 292
Background: To characterize the phenotype and genotype of a rare syndrome associating posterior microphthalmos (PM), retinitis pigmentosa (RP), and... 
foveoschisis | optic nerve drusen | retinitis pigmentosa | Posterior microphthalmos | membrane frizzled-related protein | NANOPHTHALMOS | CRB1 | GENETICS & HEREDITY | OPHTHALMOLOGY | RECESSIVE SYNDROME
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2015, Volume 167, Issue 7, pp. 1597 - 1600
Journal Article
BMC Genetics, ISSN 1471-2156, 12/2014, Volume 15, Issue 1
Molecular diagnosis of Inherited Retinal Dystrophies (IRD) has long been challenging due to the extensive clinical and genetic heterogeneity present in this... 
Phenotype | Gene mutations | Analysis | Genetic research | Genetic aspects | Nucleotide sequencing | DNA sequencing
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 03/2014, Volume 2, Issue 2, pp. 124 - 133
Bardet–Biedl syndrome ( BBS ) is a model ciliopathy characterized by a wide range of clinical variability. The heterogeneity of this condition is reflected in... 
intrafamilial variability | Bardet–Biedl Syndrome | MKKS | NPHP4 | NGS | Biedl Syndrome | Bardet | Intrafamilial variability | Mutation | Original
Journal Article