33 results on '"Porath, Jonathan D"'
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2. Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies
3. Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association
4. IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype
5. Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy
6. High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing
7. Patient Preferences to Undergo Low-Value CT Coronary Angiography in the Emergency Department
8. The Effect of Financial Incentives on Patient Decisions to Undergo Low‐value Head Computed Tomography Scans
9. The Effect of Financial Incentives on Patient Decisions to Undergo Low-Value Head CT Scans
10. Patient Preferences for Diagnostic Testing in the Emergency Department: A Cross‐sectional Study
11. Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans
12. A low-fidelity, high-functionality, inexpensive ultrasound-guided nerve block model
13. Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease
14. SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling
15. A FANCD2/FANCI-Associated Nuclease 1-Knockout Model Develops Karyomegalic Interstitial Nephritis
16. FAT1 mutations cause a glomerulotubular nephropathy
17. Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity
18. Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies
19. Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms
20. Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia
21. ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6
22. Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies ImplicateZIC3andFOXF1in Human VATER/VACTERL Association
23. TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone
24. Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis
25. DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling
26. Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability
27. Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans
28. Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia
29. Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms
30. ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6
31. A low-fidelity, high-functionality, inexpensive ultrasound-guided nerve block model.
32. Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity
33. Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease
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