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Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 09/2016, Volume 57, Issue 11, pp. 4814 - 4814
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 05/2015, Volume 133, Issue 5, p. 511
  Screening for splice site mutation c.828+3A>T in the peripherin 2 (PRPH2) gene should be a high priority in families with highly variable retinal... 
Genetic disorders | Genes | Eye diseases | Mutation | Ophthalmology | Polymorphism
Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 04/2019, Volume 200, pp. 76 - 84
Variants in , a splicing factor, are a common cause of autosomal dominant retinitis pigmentosa (RP). Deleterious variants are thought to cause disease by... 
MESSENGER-RNA | OPTICAL COHERENCE TOMOGRAPHY | FAMILIES | GENES | OPHTHALMOLOGY | AUTOSOMAL-DOMINANT | PRPF31 | MUTATIONS | EXPRESSION | CELL-DEATH | HAPLOINSUFFICIENCY | Retinitis pigmentosa | Development and progression | Proteins | Statistical analysis | Retina | Genetic testing | Mutation | Ophthalmology | Patients | Deoxyribonucleic acid--DNA | Age
Journal Article
Human Genetics, ISSN 0340-6717, 3/2014, Volume 133, Issue 3, pp. 331 - 345
Journal Article
Science, ISSN 0036-8075, 4/2005, Volume 308, Issue 5720, pp. 362 - 364
Journal Article
PLoS ONE, ISSN 1932-6203, 2011, Volume 6, Issue 8, pp. e23021 - e23021
Journal Article
BMC Bioinformatics, ISSN 1471-2105, 03/2017, Volume 18, Issue 1, pp. 147 - 147
Background: Targeted next-generation sequencing (NGS) has been widely used as a cost-effective way to identify the genetic basis of human disorders. Copy... 
Copy number variation | Next-generation sequencing | Maximum penalized likelihood estimation | SUSCEPTIBILITY | BIOCHEMICAL RESEARCH METHODS | HIDDEN MARKOV MODEL | HUMAN GENOME | GENE | MOLECULAR DIAGNOSIS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | HIGH-RESOLUTION | DISEASE | MATHEMATICAL & COMPUTATIONAL BIOLOGY | SEGMENTAL DUPLICATIONS | STRUCTURAL VARIATION | RETINITIS-PIGMENTOSA | Likelihood Functions | Humans | Sensitivity and Specificity | Software | Genome, Human | High-Throughput Nucleotide Sequencing - methods | Sequence Analysis, DNA - methods | DNA Copy Number Variations | Cytogenetics | Usage | Research | Nucleotide sequencing | Copy number variations | DNA sequencing | Markov process | Fidelity | Intelligence | Segmentation | Identification methods | Copy number | Genes | Burrows | Lung | Lung cancer | Genomes | Decomposition | Hybridization | Population genetics | Bacterial artificial chromosomes | Dissolved organic carbon | Epidermal growth factor | Genetics | Mathematical models | Bioinformatics | Deoxyribonucleic acid--DNA | Breakpoints | Statistical analysis | Nucleotide sequence | Introns | Principal components analysis | Nucleic acids | Computer programs | Sensitivity | Algorithms | DNA microarrays | Mutation | Gene mapping | Artificial intelligence | Bayesian analysis | Methods | Cancer | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2009, Volume 85, Issue 5, pp. 617 - 627
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 10/2011, Volume 19, Issue 10, pp. 1074 - 1081
Journal Article
2004, 1. Aufl., Novartis Foundation symposium, ISBN 0470853573, Volume 255, 228
Retinal dystrophies are the major causes of incurable blindness in the Western world. Our insight into their aetiology has improved remarkably over the past... 
Retinal degeneration | Gene therapy | Congresses
eBook