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NPHP1
Educational Paper Ciliopathies
Renal Cystic Disorders Infosheet 6-14-19
THE CELL BIOLOGICAL BASIS of CILIARY DISEASE • MARSHALL 19 and Channels Are Located in This Specialized Membrane, Which References Are Crucial for Ciliary Function
Novel Splicing Variant C. 208+2T>C in BBS5 Segregates with Bardet–Biedl
Ciliopathies
<Em>RPGRIP1</Em> and Cone-Rod Dystrophy in Dogs
MVL - Institutional & Self-Pay Test Price List *All Prices Are for Institutional Clients and Self-Pay ONLY
Glomerulocystic Kidney Disease in Mice with a Targeted Inactivation of Wwtr1
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss
NPHP1 Gene Deletion Is a Rare Cause of Joubert Syndrome Related Disorders
1 AHI1 Mutations Cause Both Retinal
Cone Dystrophy Associated with a Novel Variant in the Terminal Codon of the RPGR-ORF15
HHS Public Access Author Manuscript
Mutations in KIF7 Link Joubert Syndrome with Sonic Hedgehog Signaling and Microtubule Dynamics
Congenital Stationary Night Blindness; RS: Retinoschisis
Open Sesame: How Transition Fibers and the Transition Zone Control Ciliary Composition
Loss of Tctn3 Causes Neuronal Apoptosis and Neural Tube Defects
Kidneyseq™ V4 – 312 Genes CAKUT Branchiooculofacial Syndrome AD
Top View
Nuclear Roles for Cilia-Associated Proteins
Chapter 4: Role of Modifier Effects on Retinal Phenotypes In
Cilium-Generated Signaling and Cilia-Related Disorders
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort
NPHP1 Gene Nephrocystin 1
Nephronophthisis
STORM Imaging Reveals the Spatial Arrangement of Transition Zone Components and IFT Particles at the Ciliary Base in Tetrahymena Khodor S
NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD
Ciliopathies
Evidence for Secondary-Variant Genetic Burden and Non-Random Distribution Across Biological Modules in a Recessive Ciliopathy
Nphp1 Invs (Nphp2) Nphp3 Nphp4 Nphp5 (Iqcb1) Nphp6 (Cep290) Tmem67 (Nphp11)
Mutations in the Gene Encoding the Basal Body Protein RPGRIP1L, a Nephrocystin-4 Interactor, Cause Joubert Syndrome
Defective INPP5E Distribution in NPHP1-Related Senior-Løken
Nephronophthisis Summary
HHS Public Access Author Manuscript
Developmental Disruptions Underlying Brain Abnormalities in Ciliopathies
Nephrocystin Specifically Localizes to the Transition Zone of Renal and Respiratory Cilia and Photoreceptor Connecting Cilia
Targeted Exome Sequencing Identi Ed a Novel USH2A