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TULP1
Mouse Mutants As Models for Congenital Retinal Disorders
TULP1 Mutations Causing Early-Onset Retinal Degeneration: Preserved but Insensitive Macular Cones
Perkinelmer Genomics to Request the Saliva Swab Collection Kit for Patients That Cannot Provide a Blood Sample As Whole Blood Is the Preferred Sample
Research Article Mouse Model Resources for Vision Research
Clinical and Molecular Genetic Aspects of Leber's Congenital
Phosphoinositides Regulate Ciliary Protein Trafficking to Modulate
Photoreceptor Cilia and Retinal Ciliopathies
EGL Test Description
The Tubby Family Proteins Saikat Mukhopadhyay* and Peter K Jackson*
Hypomorphic Mutations Identified in the Candidate Leber Congenital Amaurosis Gene CLUAP1
Leber Congenital Amaurosis/Early-Onset Severe
Aagab S00002 Aars S00003 Aars2 S00004 Aass S02483
Disruption of Intraflagellar Protein Transport in Photoreceptor Cilia Causes Leber Congenital Amaurosis in Humans and Mice
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss
Pathogenic Mutations in TULP1 Responsible for Retinitis Pigmentosa Identified in Consanguineous Familial Cases
A Very Early Diagnosis of Alstrӧm Syndrome by Next Generation Sequencing
ADX609 3301 Athena Newborndx Gene Panel Update 3-30-20.Indd
Ciliopathies
Top View
Benchmarking Exomiser on Real Patient Whole-Exome Data
Abnormal Respiratory Cilia in Non-Syndromic Leber Congenital
Novel Homozygous TULP1 and RPE65 Variants Underlies Recessive Retinitis Pigmentosa
Comprehensive Genotyping Reveals RPE65 As the Most Frequently Mutated Gene in Leber Congenital Amaurosis in Denmark
Congenital Stationary Night Blindness; RS: Retinoschisis
Combining Gene Mapping and Phenotype Assessment for Fast
Mutations in RD3 Are Associated with an Extremely Rare and Severe Form of Early Onset Retinal Dystrophy
Implication of Tubby Proteins As Transcription Factors by Structure
TULP3 Bridges the IFT-A Complex and Membrane Phosphoinositides to Promote Trafficking of G Protein-Coupled Receptors Into Primary Cilia
Perkinelmer Genomics to Request the Saliva Swab Collection Kit for Patients That Cannot Provide a Blood Sample As Whole Blood Is the Preferred Sample
Investigating Inherited Renal Disorders and Identification of a Novel Cause of Joubert Syndrome
SARS-Cov-2 3Clpro Whole Human Proteome Cleavage
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
Membranes of Human Neutrophils Secretory Vesicle Membranes And
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort
Molecular Characterization of TUB, TULP1, and TULP2, Members of the Novel Tubby Gene Family and Their Possible Relation to Ocular Diseases
Target Capture Sequencing for Inherited Retinal Degenerations
Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease
The Intraflagellar Transport Protein, IFT88, Is Essential for Vertebrate Photoreceptor Assembly and Maintenance
Autozygome-Guided Exome Sequencing in Retinal Dystrophy Patients Reveals Pathogenetic Mutations and Novel Candidate Disease Genes
Genetics Director: Stephanie A. Hagstrom, Phd Cole Eye Institute
Current Concepts of Genotype-Phenotype Correlations
EGL Test Description
Leber Congenital Amaurosis
Cone Rod Dystrophy Precision Panel Overview Indications Clinical Utility
Albinism Cone-‐Rod Dystrophy
Novel RP1 Mutations and a Recurrent BBS1 Variant Explain the Co
The Caenorhabditis Elegans Tubby Homolog Dynamically Modulates
Photoreceptor Compartment-Specific TULP1 Interactomes
Predoc Program
Blueprint Genetics Retinitis Pigmentosa Panel
STAT Autism and Intellectual Disability Panel
Novel Compound Heterozygous TULP1 Mutations in a Family with Severe Early-Onset Retinitis Pigmentosa
Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease
TULP1 and TUB Are Required for Specific Localization of PRCD To
The Disease Protein Tulp1 Is Essential for Periactive Zone Endocytosis in Photoreceptor Ribbon Synapses
Synergistic Genetic Interactions Between Pkhd1 and Pkd1 Result in an ARPKD-Like Phenotype in Murine Models
Towards Retinal Repair: Analysis of Photoreceptor Precursor Cells and Their Cell Surface Molecules
Genetic Analysis of Indian Families with Autosomal Recessive Retinitis Pigmentosa by Homozygosity Screening
Gene Therapy for Inherited Retinal Disease
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
Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients with Infantile Nystagmus Syndrome
Involvement of Endoplasmic Reticulum Stress in TULP1 Induced Retinal Degeneration
Photoreceptor Compartment-Specific TULP1 Interactomes
Association of Pathogenic Mutations in TULP1 with Retinitis Pigmentosa in Consanguineous Pakistani Families
Recessive Gene List V2.0
Signals Governing the Trafficking and Mistrafficking of a Ciliary GPCR, Rhodopsin