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- HHS Public Access Author Manuscript
- Congenital Stationary Night Blindness; RS: Retinoschisis
- The Classical Genetic and Genomic Approach to the Pathogenesis of Primary Ciliary Dyskinesia Geremek, Maciej
- Kidneyseq™ V4 – 312 Genes CAKUT Branchiooculofacial Syndrome AD
- Kidneyseq™: a Comprehensive Inherited Kidney Disease Panel Iowa Institute of Human Genetics
- 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
- Chapter 4: Role of Modifier Effects on Retinal Phenotypes In
- Mechanistic Insights Into Bardet-Biedl Syndrome, a Model Ciliopathy
- Cilium-Generated Signaling and Cilia-Related Disorders
- Primary Ciliary Dyskinesia Precision Panel Overview Indications
- Next Generation and Sanger Sequencing Platforms
- A Cleavage Product of Polycystin-1 Is a Mitochondrial Matrix Protein That
- EGL Test Description
- The Nonmotile Ciliopathies Jonathan L
- Renal Disease Testing at Washington University
- Target Capture Sequencing for Inherited Retinal Degenerations
- Wnt Signaling in Polycystic Kidney Disease
- Nphp1 Invs (Nphp2) Nphp3 Nphp4 Nphp5 (Iqcb1) Nphp6 (Cep290) Tmem67 (Nphp11)
- EGL Test Description
- June 2013 Preventiongenetics Newsletter
- 381-388 Cshperspect-CIL-Index 381..388
- Retinal Disease in Ciliopathies: Recent Advances with a Focus on Stem Cell-Based Therapies
- Kidneyseq™ Iowa Institute of Human Genetics
- Towards Gene Therapy for Primary Ciliary Dyskinesia
- PKD1 Gene Enable High Diagnostic Yield in ADPKD
- Autosomal Dominant Polycystic Kidney Disease (ADPKD, MIM 173900, PKD1 and PKD2 Genes, Protein Products Known As Polycystin-1 and Polycystin-2)
- Report the NPHP1 Gene Deletion Associated with Juvenile
- Lack of a Laterality Phenotype in Pkd1 Knock-Out Embryos Correlates with Absence of Polycystin-1 in Nodal Cilia
- NPHP1, INVS, NPHP3, and NPHP4 Gene Deletion/Duplication Panel Test Code: WX Turnaround Time: 2 Weeks CPT Codes: 81228 X1, 81405 X1
- Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria Tracy Dixon-Salazar,1 Jennifer L
- Reversal of Left-Right Asymmetry Induced by Aberrant Nodal Signaling in the Node of Mouse Embryos
- Intraflagellar Transport and Cilia-Dependent Renal Disease: the Ciliary Hypothesis of Polycystic Kidney Disease
- Prenatal Cytogenetics Requisition
- Report 81584
- High NPHP1 and NPHP6 Mutation Rate in Patients With
- Download Gene List
- Cooccurrence of Joubert Syndrome and Jeune Asphyxiating Thoracic
- The Emerging Landscape of Dynamic DNA Methylation in Early Childhood
- Molecular Pathogenesis of ADPKD: the Polycystin Complex Gets Complex
- Understanding Primary Ciliary Dyskinesia and Other Ciliopathies
- Genetic Disturbances in Patients with Bodily Isomerism from a Single
- Blueprint Genetics Primary Ciliary Dyskinesia Panel