307 results on '"P. Hopkin"'
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2. Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study.
3. Complex genomic rearrangements of the Y chromosome in a premature infant
4. A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem
5. Genomic attributes of airway commensal bacteria and mucosa
6. Real-life impacts of olipudase alfa: The experience of patients and families taking an enzyme replacement therapy for acid sphingomyelinase deficiency
7. Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
8. RNA sequencing reveals a complete picture of a homozygous missense variant in a patient with VPS13D movement disorder: a case report and review of the literature
9. Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)
10. Using Probabilistic Zone Model Simulations to Investigate the Deterministic Assumptions of UK Residential Corridor Smoke Control Design
11. Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features
12. Correction to: Using Probabilistic Zone Model Simulations to Investigate the Deterministic Assumptions of UK Residential Corridor Smoke Control Design
13. Triazolide Complexes of Sodium and Potassium in the Gas Phase.
14. Analysis of the baseline characteristics of Fabry disease patients screened for the pegunigalsidase alfa phase III BALANCE study
15. Health insurance literacy and health services access barriers in Niemann–Pick disease: the patient and caregiver voice
16. Building robust, proportionate, and timely approaches to regulation and evaluation of digital mental health technologies
17. GRHL3 binding and enhancers rearrange as epidermal keratinocytes transition between functional states.
18. Risk Tolerability Limits for Fire Engineering Design: Methodology and Reference Case Study
19. Design Fire Characteristics for Probabilistic Assessments of Dwellings in England
20. Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction
21. A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome
22. Review of Current Practice in Probabilistic Structural Fire Engineering: Permanent and Live Load Modelling
23. A Study of the Time of Day and Room of Fire Origin for Dwelling Fires
24. A Review of Design Values Adopted for Heat Release Rate Per Unit Area
25. Development of the Fabry Disease Patient-Reported Outcome (FD-PRO): a new instrument to measure the symptoms and impacts of Fabry Disease
26. Impact and burden of acid sphingomyelinase deficiency from a patient and caregiver perspective
27. Frailty inclusive care in acute and community-based settings: a systematic review protocol
28. Prenatal evaluation of the Sakoda complex
29. Genomic education for the next generation of health-care providers
30. Fetal brain MRI findings and neonatal outcome of common diagnosis at a tertiary care center
31. The Need for Hierarchies of Acceptance Criteria for Probabilistic Risk Assessments in Fire Engineering
32. What influences practitioners’ readiness to deliver psychological interventions by telephone? A qualitative study of behaviour change using the Theoretical Domains Framework
33. ‘I didn’t know what to expect’: Exploring patient perspectives to identify targets for change to improve telephone-delivered psychological interventions
34. Guest Editorial: Probabilistic Methods in Fire Safety Engineering
35. The J-Value and Its Role in Evaluating Investments in Fire Safety Schemes
36. Interventions at the Transition from Prison to the Community for Prisoners with Mental Illness: A Systematic Review
37. De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder
38. Novel parent-of-origin-specific differentially methylated loci on chromosome 16
39. A Review of Fire Resistance Expectations for High-Rise UK Apartment Buildings
40. NHS trusts should provide everyone with a locker
41. Key successes and challenges in providing mental health care in an urban male remand prison: a qualitative study
42. Maximizing the Yield of Small Samples in Prevention Research: A Review of General Strategies and Best Practices
43. Aging modulates homeostatic leukocyte trafficking to the peritoneal cavity in a sex-specific manner
44. Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome
45. Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes
46. 86‐4: High‐Performance Perovskite Nanocrystals and Photoresists for In‐Pixel Color Conversion
47. Like Mother, Like Daughter: Feeding Intolerance in the NICU.
48. 55.2: High performance perovskite nanocrystals and photoresists for in‐pixel colour conversion
49. Modelling the thermal radiation from kitchen hob fires
50. Measuring Substance-Related Disorders Using Canadian Administrative Health Databanks: Interprovincial Comparisons of Recorded Diagnostic Rates, Incidence Proportions and Mortality Rate Ratios
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