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LCA5
Ciliopathiesneuromuscularciliopathies Disorders Disorders Ciliopathiesciliopathies
European School of Genetic Medicine Eye Genetics
Treatment Potential for LCA5-Associated Leber Congenital Amaurosis
Genotype-Phenotype Correlation for Leber Congenital Amaurosis in Northern Pakistan
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Perkinelmer Genomics to Request the Saliva Swab Collection Kit for Patients That Cannot Provide a Blood Sample As Whole Blood Is the Preferred Sample
The Ciliopathy Gene Nphp-2 Functions in Multiple Gene Networks and Regulates
Comprehensive Mutation Analysis by Whole-Exome Sequencing in 41 Chinese Families with Leber Congenital Amaurosis
Leber Congenital Amaurosis Caused by Lebercilin(LCA5) Mutation
Investigating Embryonic Expression Patterns and Evolution of AHI1 and CEP290 Genes, Implicated in Joubert Syndrome
Identification of a Novel LCA5 Mutation in a Pakistani Family with Leber Congenital Amaurosis and Cataracts
Leber Congenital Amaurosis
Expanding the Clinical, Allelic, and Locus Heterogeneity of Retinal Dystrophies
EGL Test Description
Hypomorphic Mutations Identified in the Candidate Leber Congenital Amaurosis Gene CLUAP1
Aagab S00002 Aars S00003 Aars2 S00004 Aass S02483
Progession of Phenotype in Leber's Congenital Amaurosis with A
Disruption of Intraflagellar Protein Transport in Photoreceptor Cilia Causes Leber Congenital Amaurosis in Humans and Mice
Top View
An Organelle-Specific Protein Landscape Identifies
ADX609 3301 Athena Newborndx Gene Panel Update 3-30-20.Indd
Ciliopathies
Benchmarking Exomiser on Real Patient Whole-Exome Data
Abnormal Respiratory Cilia in Non-Syndromic Leber Congenital
Congenital Stationary Night Blindness; RS: Retinoschisis
Identification of Novel Mutations in Patients with Leber Congenital
Blueprint Genetics Retinal Dystrophy Panel
A Systems-Biology Approach to Understanding the Ciliopathy Disorders Ji Eun Lee and Joseph G Gleeson*
Mutation Analysis of Leber Congenital Amaurosis‑Associated Genes in Patients with Retinitis Pigmentosa
The Ciliary Transition Zone: Finding the Pieces and Assembling the Gate
Perkinelmer Genomics to Request the Saliva Swab Collection Kit for Patients That Cannot Provide a Blood Sample As Whole Blood Is the Preferred Sample
Blueprint Genetics Leber Congenital Amaurosis Panel
Benchmarking Exomiser on Real Patient Whole-Exome Data
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
QLT Retinoid Compound Background Information Final
Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease
Current Concepts of Genotype-Phenotype Correlations
EGL Test Description
Nephronophthisis: a Genetically Diverse Ciliopathy
2019 - 2020 Aravind Medical Research Foundation
381-388 Cshperspect-CIL-Index 381..388
Inline-Supplementary-Material-1.Pdf
Knocking out Lca5 in Zebrafish Causes Cone-Rod Dystrophy Due to Impaired
Albinism Cone-‐Rod Dystrophy
STAT Autism and Intellectual Disability Panel
Downloaded from NIH.Figshare.Com at 1090 ( (Mann Et Al., 2019A)
Report 81584
Retinal Disease GENETIC TESTING Molecular Genetic Testing Retinal Disease Panels
Leber Congenital Amaurosis and Other Autosomal
PDF-Document
Molecular Vision Laboratory, Inc. DISEASE NAME
Synergistic Genetic Interactions Between Pkhd1 and Pkd1 Result in an ARPKD-Like Phenotype in Murine Models
Cilia Interactome with Predicted Protein–Protein Interactions Reveals Connections to Alzheimer’S Disease, Aging and Other Neuropsychiatric Processes Kalyani B
Review Article Nephronophthisis: a Genetically Diverse Ciliopathy
Comprehensive Genetic Testing for Hearing and Vision Loss
Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients with Infantile Nystagmus Syndrome
Alterations of Ciliary Transport in Inherited Retinal Dystrophies
PDF Hosted at the Radboud Repository of the Radboud University Nijmegen
RNA-Seq Reveals Novel Genes and Pathways Involved in Bovine
Recessive Gene List V2.0
Spotlight on Childhood Blindness