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426 results on '"Parker, Michael J."'

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2. A Large Language Model Approach to Educational Survey Feedback Analysis

3. Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return

4. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

8. Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies

9. A procalcitonin-based algorithm to guide antibiotic use in patients with acute pancreatitis (PROCAP): a single-centre, patient-blinded, randomised controlled trial

11. BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome

16. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

17. Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders

18. Quantifying the contribution of recessive coding variation to developmental disorders

20. The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

21. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

22. De novo and biallelic DEAF1 variants cause a phenotypic spectrum

24. International network of cancer genome projects

25. International network of cancer genome projects.

26. Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene’s candidacy in 6q16.1 deletions

27. Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland

28. Ethical issues in Nipah virus control and research: addressing a neglected disease

29. Optimizing the Diagnosis of Rare Genomic Disease in the UK and Ireland

32. PROCalcitonin-based algorithm for antibiotic use in Acute Pancreatitis (PROCAP): study protocol for a randomised controlled trial

33. Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

34. Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

35. Optimising diagnostic yield in highly penetrant genomic disease

37. FOXP1-related intellectual disability syndrome: a recognisable entity

38. Work-Up and Outcome of Hepatic Resection for Peri-Hilar Cholangiocarcinoma (PH-CCA) without Staging Laparoscopy

42. Prevalence and architecture of de novo mutations in developmental disorders

43. Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders

45. Further delineation of phenotypic spectrum ofSCN2A‐related disorder

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