22 results on '"Porath, Jonathan D"'
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2. The Effect of Financial Incentives on Patient Decisions to Undergo Low‐value Head Computed Tomography Scans
3. The Effect of Financial Incentives on Patient Decisions to Undergo Low-Value Head CT Scans
4. Patient Preferences for Diagnostic Testing in the Emergency Department: A Cross‐sectional Study
5. A low-fidelity, high-functionality, inexpensive ultrasound-guided nerve block model
6. Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease
7. SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling
8. A FANCD2/FANCI-Associated Nuclease 1-Knockout Model Develops Karyomegalic Interstitial Nephritis
9. FAT1 mutations cause a glomerulotubular nephropathy
10. Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity
11. Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies
12. Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies ImplicateZIC3andFOXF1in Human VATER/VACTERL Association
13. IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype
14. TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone
15. Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis
16. DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling
17. Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability
18. Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans
19. Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia
20. Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms
21. ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6
22. High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing
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