All Stories

  1. Qualitative findings from a systematic review: Visual arts engagement for adults with mental health conditions1
  2. A Collaborative-Filtering-Based Data Collection Strategy for Friedreich’s Ataxia
  3. Analysis of Friedreich's ataxia patient clinical data reveals importance of accurate GAA repeat determination in disease prognosis and gender differences in cardiac measures
  4. Sport and dance interventions for healthy young people (15–24 years) to promote subjective well-being: a systematic review
  5. What works for wellbeing? A systematic review of wellbeing outcomes for music and singing in adults
  6. What works for wellbeing in culture and sport? Report of a DELPHI process to support coproduction and establish principles and parameters of an evidence review
  7. Genome wide classification and characterisation of CpG sites in cancer and normal cells
  8. Orexin receptors exert a neuroprotective effect in Alzheimer’s disease (AD) via heterodimerization with GPR103
  9. Investigating the speedup of systems biology simulation using the SZTAKI Desktop Grid
  10. Comparative (Computational) Analysis of the DNA Methylation Status of Trinucleotide Repeat Expansion Diseases
  11. Pathway Based Microarray Analysis, Utilising Enzyme Compounds and Cascade Events
  12. Multi-membership gene regulation in pathway based microarray analysis
  13. The use of an e-learning constructivist solution in workplace learning
  14. Mining pathway signatures from microarray data and relevant biological knowledge
  15. Epigenetic Inactivation Implies Independent Functions for Insulin-like Growth Factor Binding Protein (IGFBP)-Related Protein 1 and the Related IGFBPL1 in Inhibiting Breast Cancer Phenotypes
  16. The use of an e-learning constructivist solution in workplace learning
  17. Biochemical Pathway Analysis via Signature Mining
  18. Computer Simulations Improve University Instructional Laboratories
  19. The Phenotype of Leber Congenital Amaurosis in Patients With AIPL1 Mutations
  20. Genes and proteins involved in the control of meiosis
  21. Phenotype of Retinitis Pigmentosa Associated With the Ser50Thr Mutation in the NRL Gene
  22. Guanylate Cyclase Activating Proteins, Guanylate Cyclase and Disease
  23. Autosomal Dominant Cone-Rod Dystrophy With Mutations in the Guanylate Cyclase 2D Gene Encoding Retinal Guanylate Cyclase-1
  24. Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies
  25. Spectrum of Mutations in USH2A in British Patients with Usher Syndrome Type II
  26. Chromosomal Duplication Involving the Forkhead Transcription Factor Gene FOXC1 Causes Iris Hypoplasia and Glaucoma
  27. Chromosomal Duplication Involving the Forkhead Transcription Factor Gene FOXC1 Causes Iris Hypoplasia and Glaucoma
  28. NRL S50T mutation and the importance of ‘founder effects’ in inherited retinal dystrophies
  29. Prevalence of AIPL1 Mutations in Inherited Retinal Degenerative Disease
  30. Importance of the autosomal recessive retinitis pigmentosa locus on 1q31-q32.1 (RP12) and mutation analysis of the candidate gene RGS16 (RGS-r)
  31. Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
  32. Clinical Features of Codon 172 RDSMacular Dystrophy
  33. Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)
  34. Refinement of the Locus for Autosomal Recessive Retinitis Pigmentosa (RP25) Linked to Chromosome 6q in a Family of Pakistani Origin
  35. Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32
  36. Severe autosomal dominant retinitis pigmentosa caused by a novel rhodopsin mutation (Ter349Glu)
  37. Molecular Genetic Study of Autosomal Dominant Retinitis pigmentosa in Lithuanian Patients
  38. Dominant optic atrophy: exclusion and fine genetic mapping of the candidate gene, HRY
  39. Further refinement of the Usher 2A locus at 1q41.
  40. Mutations in the Retinal Guanylate Cyclase (RETGC-1) Gene in Dominant Cone-Rod Dystrophy
  41. GCAP1(Y99C) Mutant Is Constitutively Active in Autosomal Dominant Cone Dystrophy
  42. A Locus for Autosomal Recessive Congenital Microphthalmia Maps to Chromosome 14q32
  43. A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1
  44. Founder Effect, Seen in the British Population, of the 172 Peripherin/RDS Mutation—and Further Refinement of Genetic Positioning of the Peripherin/RDS Gene
  45. Caldesmon mRNA splicing and isoform expression in mammalian smooth-muscle and non-muscle tissues
  46. Analysis of HLA antigens on germ cells in human semen