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1. The ribosome lowers the entropic penalty of protein folding

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

6. Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions

7. Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy.

8. RNA variant assessment using transactivation and transdifferentiation

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

10. Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population

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

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

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

17. Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome

18. Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions

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

24. Genome Sequencing for Diagnosing Rare Diseases

25. Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services

26. Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol

29. Novel Small Molecules Targeting the Intrinsically Disordered Structural Ensemble of α-Synuclein Protect Against Diverse α-Synuclein Mediated Dysfunctions

37. Generation and Characterization of a Human Neuronal In Vitro Model for Rett Syndrome Using a Direct Reprogramming Method

38. Gene selection for genomic newborn screening: moving towards consensus?

40. Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency

42. Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus

47. Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)

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