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IQCB1
Educational Paper Ciliopathies
Ciliopathies Gene Panel
TULP1 Mutations Causing Early-Onset Retinal Degeneration: Preserved but Insensitive Macular Cones
Supplementary Table 8. Cpcp PPI Network Details for Significantly Changed Proteins, As Identified in 3.2, Underlying Each of the Five Functional Domains
Perkinelmer Genomics to Request the Saliva Swab Collection Kit for Patients That Cannot Provide a Blood Sample As Whole Blood Is the Preferred Sample
Novel Gene Discovery in Primary Ciliary Dyskinesia
Ciliary Genes in Renal Cystic Diseases
EGL Test Description
Hypomorphic Mutations Identified in the Candidate Leber Congenital Amaurosis Gene CLUAP1
Leber Congenital Amaurosis/Early-Onset Severe
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
Risk Variants Disrupting Enhancers of TH1 and TREG Cells in Type 1 Diabetes
Table SV. GO and KEGG Analysis of the Co-Expressed Pcgs with Predicting Pcgs and Lncrnas by Clusterprofiler
Gnomad Lof Supplement
Ciliopathies: Genetics in Pediatric Medicine
Identification of Novel Regulatory Genes in Acetaminophen
Comprehensive Genotyping Reveals RPE65 As the Most Frequently Mutated Gene in Leber Congenital Amaurosis in Denmark
Top View
Congenital Stationary Night Blindness; RS: Retinoschisis
A Systems-Biology Approach to Understanding the Ciliopathy Disorders Ji Eun Lee and Joseph G Gleeson*
Kidneyseq™ V4 – 312 Genes CAKUT Branchiooculofacial Syndrome AD
Kidneyseq™: a Comprehensive Inherited Kidney Disease Panel Iowa Institute of Human Genetics
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
Chapter 4: Role of Modifier Effects on Retinal Phenotypes In
Nephrocystin-5, a Ciliary IQ Domain Protein, Is Mutated in Senior-Loken Syndrome and Interacts with RPGR and Calmodulin
Clinical Features of Senior–Loken Syndrome with IQCB1/NPHP5 Mutation in a Filipino Man
IQCB1 Mutations in Patients with Leber Congenital Amaurosis
An Investigation of Gene Networks Influenced by Low Dose Ionizing Radiation Using Statistical and Graph Theoretical Algorithms
Nephronophthisis
NGS Oncology)
Ciliopathies Gene Panel
IQCB1-Related Disease
Current Concepts of Genotype-Phenotype Correlations
Epb41l5 Interacts with Iqcb1 and Regulates Ciliary Function in Zebrafish Embryos Tiffany Yu1 and Miho Matsuda1,2,*
Nphp1 Invs (Nphp2) Nphp3 Nphp4 Nphp5 (Iqcb1) Nphp6 (Cep290) Tmem67 (Nphp11)