40 results on '"Yousaf, Rizwan"'
Search Results
2. Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test
3. Fbxo2CreERT2: A new model for targeting cells in the neonatal and mature inner ear
4. Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria
5. Landslide Distribution Analysis and Susceptibility Mapping: A Case Study from Haveli District, Pakistan
6. Deafness DFNB110 associated with a human MAP3K1 recessive variant recapitulates hearing loss of Map3k1 kinase deficient mice
7. At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children
8. P714: Genome screening of newborns: Sequencing is easy, assessing the clinical utility of genomic findings uncovered in asymptomatic children is challenging
9. P581: Comparison of GLA variant profile in newborn screening confirmatory testing and diagnostic testing for Fabry disease*
10. Variants ofLRP2, encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy
11. Landslide Distribution Analysis and Susceptibility Mapping: A Case Study from Haveli District, Pakistan
12. Modifier variant of METTL13 suppresses human GAB1-associated profound deafness
13. P426: Recognizing the promise and potential pitfalls of genomic medicine through routine rapid whole genome sequencing
14. P389: Real-world evidence demonstrating why genome sequencing should be recommended as the first-tier genetic test*
15. P425: Unparalleled power of genome sequencing in screening ostensibly healthy newborns and children: Findings from the first real-world dataset
16. Cellular reprogramming with ATOH1, GFI1, and POU4F3 implicate epigenetic changes and cell-cell signaling as obstacles to hair cell regeneration in mature mammals
17. Variants of LRP2, encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy.
18. Design, Analysis and Prototyping of One-DoF Drive Mechanism for Flapping Wing Micro-aerial Vehicle Application
19. Author response: Cellular reprogramming with ATOH1, GFI1, and POU4F3 implicate epigenetic changes and cell-cell signaling as obstacles to hair cell regeneration in mature mammals
20. Unbalanced bidirectional radial stiffness gradients within the organ of Corti promoted by TRIOBP
21. Genetic Modifiers of Hearing Loss
22. Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria
23. FREQUENCY OF VITAMIN D DEFICIENCY IN PATIENTS PRESENTING WITH FIBROMYALGIA
24. Variants of human CLDN9 cause mild to profound hearing loss
25. Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population
26. TRIOBP promotes bidirectional radial stiffness gradients within the organ of Corti
27. Finite element analysis of double lap protruding head bolted joints in tension simulating aircraft joints
28. Design, Analysis and Fabrication of RC Operated Flapping Wing Micro Aerial Vehicle Mimicking Natural Flyers
29. Vestibular phenotype‐genotype correlation in a cohort of 90 patients with Usher syndrome
30. Correction: Hybrid Assisted Regenerative Turbofan Engine: A case study for XWB-84 modification
31. Hybrid Assisted Regenerative Turbofan Engine: A case study for XWB-84 modification
32. CFD analysis of mixing and buoyancy effects of a diffuser jet in stratified region of a solar pond
33. Formation and maintenance of salinity gradient in a solar pond using brine injection technique for linear stratification
34. Vestibular phenotype‐genotype correlation in a cohort of 90 patients with Usher syndrome.
35. Static structural and modal analysis of Micro Air Vehicle flapping wing with varying stiffness structures
36. Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse
37. MAP3K1 function is essential for cyto-architecture of mouse organ of Corti and survival of auditory hair cells
38. Structural styles, hydrocarbon prospects, and potential in the Salt Range and Potwar Plateau, north Pakistan
39. Structural styles, hydrocarbon prospects, and potential in the Salt Range and Potwar Plateau, north Pakistan.
40. MAP3K1 function is essential for cytoarchitecture of the mouse organ of Corti and survival of auditory hair cells
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