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RP1
Minireview Cilia and Flagella Revealed: from Flagellar Assembly
The Retinitis Pigmentosa 1 Protein Is a Photoreceptor Microtubule-Associated Protein
Perkinelmer Genomics to Request the Saliva Swab Collection Kit for Patients That Cannot Provide a Blood Sample As Whole Blood Is the Preferred Sample
Eye Disorders Requisition
Research Article Mouse Model Resources for Vision Research
A Transposon Screen Identifies Loss of Primary Cilia As a Mechanism of Resistance to SMO Inhibitors
Photoreceptor Degeneration Caused by Defects of a Ciliary Kinase
Comprehensive Analysis Reveals Novel Gene Signature in Head and Neck Squamous Cell Carcinoma: Predicting Is Associated with Poor Prognosis in Patients
Downloaded at Were Examined by Indirect Ophthalmoscopy (Heine Genome.Ucsc.Edu, Accession 21/10/2015)
Frequent Variants in the Japanese Population Determine Quasi-Mendelian Inheritance of Rare Retinal Ciliopathy
Disruption of Intraflagellar Protein Transport in Photoreceptor Cilia Causes Leber Congenital Amaurosis in Humans and Mice
A Genome-Wide Association Study for Diabetic Retinopathy in a Japanese Population: Potential Association with a Long Intergenic Non-Coding RNA
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss
Molecular Characterization of Mutant Mouse Strains Generated from the EUCOMM/KOMP-CSD ES Cell Resource
Genome Editing As a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa
Congenital Stationary Night Blindness; RS: Retinoschisis
Perkinelmer Genomics to Request the Saliva Swab Collection Kit for Patients That Cannot Provide a Blood Sample As Whole Blood Is the Preferred Sample
A Novel Missense RP1 Mutation in Retinitis Pigmentosa
Top View
Retinal Degeneration and Failure of Photoreceptor Outer Segment Formation in Mice with Targeted Deletion of the Joubert Syndrome Gene, Ahi1
Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families
Chapter 4: Role of Modifier Effects on Retinal Phenotypes In
A Reverse Genetic Approach Identifies an Ancestral Frameshift Mutation in RP1 Causing Recessive Progressive Retinal Degeneration
Table S7. Detected 350 Pathogenic Variants in This Study Position Allele Causative Nucleotide Amino Acid Variant Chr
Usher Syndrome: Diagnostic Approach, Differential Diagnoses And
Genetic Landscape of 6089 Inherited Retinal Dystrophies Affected Cases In
Essential and Synergistic Roles of RP1 and RP1L1 in Rod Photoreceptor Axoneme and Retinitis Pigmentosa
Target Capture Sequencing for Inherited Retinal Degenerations
Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease
Autozygome-Guided Exome Sequencing in Retinal Dystrophy Patients Reveals Pathogenetic Mutations and Novel Candidate Disease Genes
Spaceflight Influences Gene Expression, Photoreceptor
Patients with Retinitis Pigmentosa Due to RP1 Mutations Show Greater
381-388 Cshperspect-CIL-Index 381..388
Characterization of Zebrafish Mutants to Model Human Genetic Defects in the LRRC56 Gene
Analysis of Kinesin-2 Function in Photoreceptor Cells Using Synchronous Cre-Loxp Knockout of Kif3a with RHO-Cre
EYS Is a Major Gene Involved in Retinitis Pigmentosa in Japan
Inline-Supplementary-Material-1.Pdf
©Ferrata Storti Foundation
Unravelling the Genetic Basis of Simplex Retinitis Pigmentosa Cases
Novel RP1 Mutations and a Recurrent BBS1 Variant Explain the Co
(Mak) Is Required for Retinal Photoreceptor Survival
Mutation Overview and Presentation of Cep290base Frauke Coppieters, Steve Lefever, Bart P
Blueprint Genetics Retinitis Pigmentosa Panel
PDF-Document
Identity-By-Descent–Guided Mutation Analysis and Exome Sequencing in Consanguineous Families Reveals Unusual Clinical and Molecular Findings in Retinal Dystrophy
Review Article Nephronophthisis: a Genetically Diverse Ciliopathy
Genetic Analysis of Indian Families with Autosomal Recessive Retinitis Pigmentosa by Homozygosity Screening
Comprehensive Genetic Testing for Hearing and Vision Loss
Novel Genetic Mutations in Genes AGBL5 and TULP1 for Presumed Unilateral Retinitis Pigmentosa Managed with Low Vision Rehabilitation: a Case Report and Review
Genotype–Phenotype Correlation and Mutation Spectrum in a Large Cohort of Patients with Inherited Retinal Dystrophy Revealed by Next-Generation Sequencing
1 Ift172 Conditional Knockout Mice Exhibit Rapid Retinal Degeneration
Integrative Subcellular Proteomic Analysis Allows Accurate Prediction of Human Disease-Causing Genes
SEEING HOPE Newsletter
Retinitis Pigmentosa Genes Implicated in South Asian Populations: a Systematic Review