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NPHP4
GENETIC STUDY of RENAL DISEASES (Nephroref Global®) by MASSIVE SEQUENCING (NGS)
Ciliopathies Gene Panel
Evidence of Oligogenic Inheritance in Nephronophthisis
Intrafamilial Variability and Clinical Heterogeneity in Two Siblings With
Senior-Loken Syndrome: a Novel NPHP5 Gene Mutation in a Family from Kuwait
Research Article Mouse Model Resources for Vision Research
The Novel and Independent Association Between Single-Point SNP of NPHP4 Gene and Renal Function in Non-Diabetic Japanese Population: the Takahata Study
Supplementary Information – Postema Et Al., the Genetics of Situs Inversus Totalis Without Primary Ciliary Dyskinesia
February 2010 Preventiongenetics New Tests at Preventiongenetics Newsletter
Ciliopathies
Ciliary Genes in Renal Cystic Diseases
RPGRIP1L Helps to Establish the Ciliary Gate for Entry of Proteins Huawen Lin, Suyang Guo and Susan K
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss
NPHP4 Controls Ciliary Trafficking of Membrane Proteins and Large
Open Sesame: How Transition Fibers and the Transition Zone Control Ciliary Composition
Nephrocystin Specifically Localizes to the Transition Zone of Renal and Respiratory Cilia and Photoreceptor Connecting Cilia
Kidneyseq™ V4 – 312 Genes CAKUT Branchiooculofacial Syndrome AD
Interaction of Nephrocystin-4 and RPGRIP1 Is Disrupted by Nephronophthisis Or Leber Congenital Amaurosis-Associated Mutations
Top View
Perkinelmer Genomics to Request the Saliva Swab Collection Kit for Patients That Cannot Provide a Blood Sample As Whole Blood Is the Preferred Sample
Perkinelmer Genomics to Request the Saliva Swab Collection Kit for Patients That Cannot Provide a Blood Sample As Whole Blood Is the Preferred Sample
Nuclear Roles for Cilia-Associated Proteins
The Centrosomal Protein Nephrocystin-6 Is Mutated in Joubert Syndrome and Activates Transcription Factor ATF4
Chapter 4: Role of Modifier Effects on Retinal Phenotypes In
Cilium-Generated Signaling and Cilia-Related Disorders
Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease
Rpgrip1l Controls Ciliary Gating by Ensuring the Proper Amount of Cep290 at the Vertebrate Transition Zone
Nephronophthisis
STORM Imaging Reveals the Spatial Arrangement of Transition Zone Components and IFT Particles at the Ciliary Base in Tetrahymena Khodor S
Ciliopathies Gene Panel
Nphp1 Invs (Nphp2) Nphp3 Nphp4 Nphp5 (Iqcb1) Nphp6 (Cep290) Tmem67 (Nphp11)
EGL Test Description
Newborndxtm Advanced Sequencing Evaluation Disorders List
Common Variants in Mendelian Kidney Disease Genes and Their Association with Renal Function
Prediction of Human Phenotype Ontology Terms
Cone Rod Dystrophy Precision Panel Overview Indications Clinical Utility
Ciliary Proteins Specify the Cell Inflammatory Response by Tuning