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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.

5. Genomic attributes of airway commensal bacteria and mucosa

7. Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.

9. Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)

11. Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features

14. Analysis of the baseline characteristics of Fabry disease patients screened for the pegunigalsidase alfa phase III BALANCE study

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.

21. A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome

37. De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

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

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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