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2. Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition

4. Genome sequencing reanalysis increases the diagnostic yield in dystonia

6. A novel transcriptional signature identifies T-cell infiltration in high-risk paediatric cancer

7. Histone H3-wild type diffuse midline gliomas with H3K27me3 loss are a distinct entity with exclusive EGFR or ACVR1 mutation and differential methylation of homeobox genes

9. Diagnostic classification of childhood cancer using multiscale transcriptomics

10. Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis

11. Measurable residual disease analysis in paediatric acute lymphoblastic leukaemia patients with ABL-class fusions

13. De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome

15. The Next, Next-Generation of Sequencing, Promising to Boost Research and Clinical Practice.

16. Next-Generation Sequencing and Emerging Technologies*.

17. Whole-genome sequencing facilitates patient-specific quantitative PCR-based minimal residual disease monitoring in acute lymphoblastic leukaemia, neuroblastoma and Ewing sarcoma

18. Precision-guided treatment in high-risk pediatric cancers

19. Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition

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

21. Targeting DNA Damage Response and Replication Stress in Pancreatic Cancer

22. Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing

23. Beyond DNA sequencing: genetic kidney disorders related to altered splicing.

24. In vitro and in vivo drug screens of tumor cells identify novel therapies for high‐risk child cancer

25. Revealing hidden genetic diagnoses in the ocular anterior segment disorders

27. The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease

28. HNF4A and GATA6 Loss Reveals Therapeutically Actionable Subtypes in Pancreatic Cancer

30. Future-proofing genomic data and consent management: a comprehensive review of technology innovations

31. Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer

32. Whole genomes redefine the mutational landscape of pancreatic cancer

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

36. Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes

43. Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework

44. Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

47. A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

49. Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity

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