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1. Are We Ready for Whole Population Genomic Sequencing of Asymptomatic Newborns?

3. Ending HIV/AIDS: Not as close as many would have us believe.

4. Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection

6. Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).

7. De novo enhancer deletion of LMX1B produces a mild nail-patella clinical phenotype

8. Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless

9. A national education program for rapid genomics in pediatric acute care: building workforce confidence, competence and capability.

10. Thermodynamic profiles for cotranslational trigger factor substrate recognition.

12. P249: Gaps in the phenotype descriptions of ultra-rare genetic conditions: Review and multi-center consensus reporting guidelines

13. Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD)

14. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

15. EPG5 -Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders

18. Rapid whole‐genome sequencing leading to specific treatment for two infants with haemophagocytic lymphohistiocytosis due to Wolman disease

19. The collective burden of childhood dementia: a scoping review

20. Integrated multi-omics for rapid rare disease diagnosis on a national scale

21. Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

22. Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease

23. TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

27. Erratum: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD)

28. EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders

36. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

37. Expression, Purification, Characterization and Cellular Uptake of MeCP2 Variants

38. Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease.

39. Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies.

40. Health-related out-of-pocket expenses for children living with rare diseases - tuberous sclerosis and mitochondrial disorders: A prospective pilot study in Australian families

41. Ethylmalonic encephalopathy masquerading as meningococcemia

42. Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function

43. Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations

44. Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of life

45. CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-track therapeutic development

46. Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency

47. Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

48. Needs of people with rare diseases that can be supported by electronic resources: a scoping review

49. Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis

50. The role of exome sequencing in childhood interstitial or diffuse lung disease

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