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RPGRIP1L
Ciliopathiesneuromuscularciliopathies Disorders Disorders Ciliopathiesciliopathies
Ciliopathies Gene Panel
The Role of Primary Cilia in the Crosstalk Between the Ubiquitin–Proteasome System and Autophagy
Molecular Studies of Phenotype Variation in Canine RPGR-XLPRA1
Blueprint Genetics Nephronophthisis Panel
Clinical Utility Gene Card For: Joubert Syndrome - Update 2013
Molecular Genetics of Schizophrenia and Related Intermediate
The Novel and Independent Association Between Single-Point SNP of NPHP4 Gene and Renal Function in Non-Diabetic Japanese Population: the Takahata Study
The Ciliopathy Gene Ftm/Rpgrip1l Controls Mouse Forebrain Patterning Via Region-Specific Modulation of Hedgehog/Gli Signaling
Ciliopathies
Photoreceptor Cilia and Retinal Ciliopathies
Ciliary Genes in Renal Cystic Diseases
Dysfunction of the Ciliary ARMC9/TOGARAM1 Protein Module Causes Joubert Syndrome
Ciliopathies: Genetics in Pediatric Medicine
RPGRIP1L Helps to Establish the Ciliary Gate for Entry of Proteins Huawen Lin, Suyang Guo and Susan K
Meckel Syndrome &Ndash
Superresolution Pattern Recognition Reveals the Architectural Map Of
(PKD2), Eccentric (XNTA), and Meckelin (MKS3) in the Ciliated Model Organism Paramecium Tetraurelia Megan Smith Valentine University of Vermont
Top View
Intraflagellar Transport 27 Is Essential for Hedgehog Signaling But
Ciliopathies
The Ciliary Transition Zone: Finding the Pieces and Assembling the Gate
Signaling Through the Primary Cilium
NEK8 Mutations Affect Ciliary and Centrosomal Localization and May Cause Nephronophthisis
Joubert Syndrome: Insights Into Brain Development, Cilium Biology, and Complex Disease Dan Doherty, MD, Phd
Perkinelmer Genomics to Request the Saliva Swab Collection Kit for Patients That Cannot Provide a Blood Sample As Whole Blood Is the Preferred Sample
Chapter 4: Role of Modifier Effects on Retinal Phenotypes In
Maintaining Centrosomes and Cilia Sascha Werner*, Ana Pimenta-Marques and Mónica Bettencourt-Dias*
Kidneyseq V4 Gene List.Pdf
How Transition Fibers and the Transition Zone Control Ciliary Composition
Primary Cilia and Coordination of Receptor Tyrosine Kinase (RTK) and Transforming Growth Factor Β (TGF-Β) Signaling
Founder Mutations and Genotype-Phenotype Correlations In
Mapping the Genomic Landscape of Inherited Retinal Disease Genes Prioritizes Genes Prone to Coding and Noncoding Copy-Number Variations
Volume 4 • 2010
Rpgrip1l Controls Ciliary Gating by Ensuring the Proper Amount of Cep290 at the Vertebrate Transition Zone
Nephronophthisis
Zebrafish Motile Cilia As a Model for Primary Ciliary Dyskinesia
Ciliopathies
Ciliopathies Gene Panel
Phenotypic Spectrum and Prevalence of INPP5E Mutations in Joubert Syndrome and Related Disorders
Mutations in the Gene Encoding the Basal Body Protein RPGRIP1L, a Nephrocystin-4 Interactor, Cause Joubert Syndrome
Nephronophthisis: Disease Mechanisms of a Ciliopathy
Model Organisms in Deciphering the Molecular Basis of Primary Ciliary Dyskinesia
Reproducible Copy Number Variation Patterns Among Single Circulating Tumor Cells of Lung Cancer Patients
Nephronophthisis Summary
Novel Compound Heterozygous TMEM67 Variants in a Vietnamese
Mutational Analysis of the RPGRIP1L Gene in Patients with Joubert
Genotypeephenotype Correlation in CC2D2A-Related Joubert Syndrome
COPY NUMBER VARIANT ANALYSIS of PATIENTS with MALFORMATIONS of CORTICAL DEVELOPMENT Luis Kolb
Searching for Susceptibility Genes for Psychosis in Late-Onset Alzheimer’S Disease
Meckel Syndrome
Cilia Interactome with Predicted Protein–Protein Interactions Reveals Connections to Alzheimer’S Disease, Aging and Other Neuropsychiatric Processes Kalyani B
A Common Allele in RPGRIP1L Is a Modifier of Retinal Degeneration in Ciliopathies
Insights Into the Pathogenesis of Polycystic Kidney Disease from Gene Discovery
Nephronophthisis-A Genetic Cause of Ciliopathy
Disruption of RPGR Protein Interaction Network Is the Common Feature of RPGR Missense Variations That Cause XLRP
The Link Between Cilia Proteins and Obesity
CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290
The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L
Blueprint Genetics Meckel Syndrome Panel
Supplemental Information