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RSPH4A
Educational Paper Ciliopathies
Ciliopathiesneuromuscularciliopathies Disorders Disorders Ciliopathiesciliopathies
Synergistic Genetic Interactions Between Pkhd1 and Pkd1 Result in an ARPKD-Like Phenotype in Murine Models
Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia
Ciliopathies Gene Panel
Next Generation Massively Parallel Sequencing of Targeted
Cldn19 Clic2 Clmp Cln3
Ciliary Dyneins and Dynein Related Ciliopathies
RSPH6A Is Required for Sperm Flagellum Formation and Male
Carrier Distribution
Novel Targets of Apparently Idiopathic Male Infertility
Cardiovascular Diseases Genetic Testing Program Information
Bardet-Biedl Syndrome
Use of Whole-Exome Sequencing to Define Genetic Causes of Primary Ciliary Dyskinesia Primary Ciliary Diskinesia (PCD)
The Pdx1 Bound Swi/Snf Chromatin Remodeling Complex Regulates Pancreatic Progenitor Cell Proliferation and Mature Islet Β Cell
EXAMPLE, NEGATIVE Patient Report
Gnomad Lof Supplement
Ciliopathies
Top View
Ulk4 Is Essential for Ciliogenesis and CSF Flow
Clinical and Genetic Aspects of Primary Ciliary Dyskinesia/Kartagener Syndrome Margaret W
Create PDF of Page
The Classical Genetic and Genomic Approach to the Pathogenesis of Primary Ciliary Dyskinesia Geremek, Maciej
Next-Generation Sequencing for Identifying Genetic Mutations in Adults with Bronchiectasis
Primary Ciliary Dyskinesia Diagnostic Challenges: Understanding the Clinical Phenotype of the Puerto Rican RSPH4A Founder Mutation
A Case of Respiratory Distress in a Neonate
Loss-Of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects
Primary Ciliary Dyskinesia
Perkinelmer Genomics to Request the Saliva Swab Collection Kit for Patients That Cannot Provide a Blood Sample As Whole Blood Is the Preferred Sample
Diagnostics and Management of Male Infertility in Primary Ciliary Dyskinesia
Bioinformatic Identification of Candidate Biomarkers and Related
EGL Test Description
View Open Access the Dynamic Cilium in Human Diseases Anna D'angelo1 and Brunella Franco*1,2
Supplemental Data
Mucociliary Respiratory Epithelium Integrity in Molecular Defense and Susceptibility to Pulmonary Viral Infections
EGL Test Description
Zebrafish Motile Cilia As a Model for Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia Panel
Ciliopathies Gene Panel
Disorders of Cilia UU
June 2013 Preventiongenetics Newsletter
An Exciting Future for Understanding Cilia and Ciliopathies Benmerah Et Al
Radial Spokes-A Snapshot of the Motility Regulation, Assembly, and Evolution of Cilia and Flagella Xiaoyan Zhu Marquette University
Nonsense Mutation in CFAP43 Causes Normal- Pressure Hydrocephalus with Ciliary Abnormalities
Distinct Architecture and Composition of Mouse Axonemal Radial Spoke Head Revealed by Cryo-EM
Distinct Architecture and Composition of Mouse Axonemal Radial Spoke Head Revealed by Cryo-EM
Switching on Cilia: Transcriptional Networks Regulating Ciliogenesis Semil P
NIH Public Access Author Manuscript Cytoskeleton (Hoboken)
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
Primary Ciliary Dyskinesia
Genetic Identification of a Common Collagen Disease in Puerto Ricans Via
Identification of RSPH4A As One of the Primary Ciliary Dyskinesia Disease
Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia
Genetic Testing Requisition
Immunofluorescence Analysis As a Diagnostic Tool in a Spanish Cohort of Patients with Primary Ciliary Dyskinesia