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167 results on '"Downie, L."'

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1. Structural phase transitions in the kagome lattice based materials Cs2-xRbxSnCu3F12 (x = 0, 0.5, 1.0, 1.5)

2. TFOS Lifestyle: Impact of contact lenses on the ocular surface

3. Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol.

4. Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development

5. Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development

6. Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development

7. Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability

9. Predictors of Early Language Outcomes in Children with Connexin 26 Hearing Loss across Three Countries

10. Predictors of Early Language Outcomes in Children with Connexin 26 Hearing Loss across Three Countries

11. Predictors of Early Language Outcomes in Children with Connexin 26 Hearing Loss across Three Countries

12. Endomembranes promote chromosome missegregation by ensheathing misaligned chromosomes

13. Variation in paediatric tonsillectomy rates between Scottish health board areas, 2001–2018: is socio-economic deprivation to blame?

15. A cost-effectiveness and utility analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients.

16. Principles of Genomic Newborn Screening Programs A Systematic Review

17. Personal utility of genomic sequencing for infants with congenital deafness

18. Exome Sequencing for Isolated Congenital Hearing Loss: A Cost-Effectiveness Analysis

19. Exome sequencing in infants with congenital hearing impairment: a population-based cohort study (vol 28, pg 587, 2020)

21. A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients.

22. Exome sequencing in infants with congenital hearing impairment: a population-based cohort study.

23. Correction: Exome sequencing in infants with congenital hearing impairment: a population-based cohort study (European Journal of Human Genetics, (2020), 28, 5, (587-596), 10.1038/s41431-019-0553-8).

24. Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project

25. Childhood Hearing Australasian Medical Professionals network: Consensus guidelines on investigation and clinical management of childhood hearing loss.

26. A novel approach to offering additional genomic findings-A protocol to test a two-step approach in the healthcare system.

27. Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening.

28. Baby beyond hearing, Using genomics as a newborn screening tool.

29. Whole exome sequencing in infants with congenital hearing loss.

30. Childhood hearing Australasian Medical Professionals (CHAMP) network: Consensus guidelines recommendations on etiological investigation and clinical medical management of childhood hearing loss in Australia.

31. Interventions to Mitigate Bias in Social Work Decision-Making: A Systematic Review

32. Childhood Hearing Australasian Medical Professionals network: Consensus guidelines on investigation and clinical management of childhood hearing loss

33. Citizen Science Models in Health Research: an Australian Commentary.

34. Suicidal ideation in a European Huntington's disease population

35. A protocol for whole-exome sequencing in newborns with congenital deafness: A prospective population-based cohort.

38. The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients

39. A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort

40. Urban Pro–Poor Registrations: Complex–Simple the Overstrand Project

44. Structural phase transitions in the kagome lattice based materials Cs 2-xRbxSnCu3F12 (x = 0, 0.5, 1.0, 1.5)

45. Congenital chylothorax: Associations and neonatal outcomes.

46. Monosomy 21 seen in live born is unlikely to represent true monosomy 21: a case report and review of the literature.

49. Infantile acne in a 2-year-old boy.

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