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8. Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort

9. A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship

12. Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicine

15. Genotype--phenotype correlations in paediatric and adolescent phaeochromocytoma and paraganglioma: a cross-sectional study.

16. Study of How Adiposity in Pregnancy has an Effect on outcomeS (SHAPES): protocol for a prospective cohort study

18. Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

20. A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations

21. DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants

26. Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies

27. Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

30. Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.

33. Epidemiology and Course of Disease in Childhood Uveitis

35. RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation–Arteriovenous Malformation

38. Mutations in PIP5K3 are associated with Francois-Neetens mouchetee fleck corneal dystrophy

41. Contributors

43. LIST OF CONTRIBUTORS

45. Treatment of noninfectious intermediate and posterior uveitis with the humanized anti-TacmAb: a phase I/II clinical trial

47. Skin cancers, blindness, and anterior tongue mass in African brothers

49. A Multicenter Study on the Prevalence and Spectrum of Mutations in the Otoferlin Gene (OTOF) in Subjects With Nonsyndromic Hearing Impairment and Auditory Neuropathy

50. Refining genotype–phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

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