240 results on '"Fitzpatrick, David"'
Search Results
2. Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants
3. The VC-Dimension and Point Configurations in Fq2
4. The Cousa objective: a long-working distance air objective for multiphoton imaging in vivo.
5. Optical darkness in short-duration $\gamma$-ray bursts
6. ECG-in-AR: Enhancing Learner Comprehension of Cardiac Electrophysiology Using an Augmented Reality Mobile Application
7. Population dynamics of mushroom casing over the course of Agaricus bisporus cultivation in the presence of Bacillus velezensis QST 713 and Bacillus velezensis Kos biocontrol agents
8. An adaptive behavioral control motif mediated by cortical axo-axonic inhibition
9. Gliotoxin-mediated bacterial growth inhibition is caused by specific metal ion depletion
10. Comparative genomic study of the Penicillium genus elucidates a diverse pangenome and 15 lateral gene transfer events
11. Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features
12. Response of the mushroom pathogen Cladobotryum mycophilum to the fungicides prochloraz and metrafenone and two Bacillus-based biological control agents in mushroom crop trials
13. Innovative Systems Engineering Solutions for Power-Positive Operations: Navigating the Multi-Constraint Challenges of the SWARM-EX CubeSat Mission
14. Efficacy and toxicity of primary re-irradiation for malignant spinal cord compression based on radiobiological modelling: a phase II clinical trial
15. Recombinant production, characterization and industrial application testing of a novel acidic exo/endo-chitinase from Rasamsonia emersonii
16. Clustered variants in the 5′ coding region of TRA2B cause a distinctive neurodevelopmental syndrome
17. Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants
18. Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study
19. Characterising the proteomic response of mushroom pathogen Lecanicillium fungicola to Bacillus velezensis QST 713 and Kos biocontrol agents
20. Epidemiology of emergency ambulance service calls related to COVID-19 in Scotland: a national record linkage study
21. Development of visual response selectivity in cortical GABAergic interneurons
22. Recommendations for clinical interpretation of variants found in non-coding regions of the genome
23. Analysis of the effect of Bacillus velezensis culture filtrate on the growth and proteome of Cladobotryum mycophilum
24. Concept of Operations for SWARM-EX: a Three CubeSat Formation-Flying Mission
25. Participants aux Davidson's Principles and Practice of Medicine, 23eédition
26. The effect of a minimum price per unit of alcohol in Scotland on alcohol‐related ambulance call‐outs: A controlled interrupted time−series analysis.
27. The Cousa objective: a long-working distance air objective for multiphoton imaging in vivo
28. A human embryonic limb cell atlas resolved in space and time
29. Response of the mushroom pathogen Cladobotryum mycophilum to the fungicides prochloraz and metrafenone and two Bacillus-based biological control agents in mushroom crop trials
30. Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect
31. Single-cell analyses reveal transient retinal progenitor cells in the ciliary margin of developing human retina.
32. Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.
33. The VC-Dimension and Point Configurations in $${\mathbb F}_q^2$$
34. PP15 A survey of knowledge, attitude and practice (KAP) in relation to the paramedic management of out-of-hospital obstetric emergencies in Queensland, Australia
35. PP14 An observational study to describe the clinical and demographic characteristics of adult patients requiring ambulance care for non-traumatic back pain (NTBP) in Scotland
36. PP20 A national retrospective cohort study of the demographic and conveyance characteristics of paediatric patients presenting to the Scottish Ambulance Service, before and during the COVID-19 pandemic
37. Heterozygous loss-of-functionSMC3variants are associated with variable and incompletely penetrant growth and developmental features
38. Multidisciplinary management of lateral skull base paragangliomas; a 20-year experience
39. Visual experience drives the development of novel and reliable visual representations from endogenously structured networks
40. Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants
41. Optical darkness in short-duration γ-ray bursts
42. Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland
43. An adaptive behavioral control motif mediated by cortical axo-axonic inhibition
44. The nature-nurture transform underlying the emergence of reliable cortical representations
45. Experience drives the development of novel, reliable cortical sensory representations from endogenously structured networks
46. Optimizing the Diagnosis of Rare Genomic Disease in the UK and Ireland
47. EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.
48. Characterization of an eye field-like state during optic vesicle organoid development.
49. P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions
50. IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders
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