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263 results on '"Maher, Eamonn"'

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1. ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome

2. International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents

4. Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis

6. Author Correction: International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents

7. Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert Consensus statement

8. Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases Cohort

9. Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort

11. Imprinting disorders

14. Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants

15. ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1

16. Description and cross-sectional analyses of 25,880 adults and children in the UK National Registry of Rare Kidney Diseases cohort

17. Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study

18. Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service

21. Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD

22. Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences

23. First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

24. Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort

27. Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert Consensus statement

28. Wilms tumour resulting from paternal transmission of a TRIM28 pathogenic variant - A first report

32. When should we offer antenatal sequencing for urinary tract malformations? A systematic review, cohort study and meta‐analysis.

34. Epigenotype–genotype–phenotype correlations in SETD1A and SETD2 chromatin disorders

35. P103: Operationalizing structured curated scientific literature (CIViC and Hypothesis) in developing gene-specific recommendations of the ClinGen VHL Variant Curation Expert Panel

36. Wilms tumour resulting from paternal transmission of a TRIM28pathogenic variant—A first report

37. UK recommendations for SDHA germline genetic testing and surveillance in clinical practice

38. When should we offer antenatal sequencing for urinary tract malformations? A systematic review, cohort study and meta-analysis

39. Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders

40. Update of penetrance estimates in Birt-Hogg-Dubé syndrome

41. Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants

44. Data from A Randomized Placebo-Controlled Prevention Trial of Aspirin and/or Resistant Starch in Young People with Familial Adenomatous Polyposis

47. Perspective on This Article from A Randomized Placebo-Controlled Prevention Trial of Aspirin and/or Resistant Starch in Young People with Familial Adenomatous Polyposis

48. Supplementary Data from Analysis of VHL Gene Alterations and their Relationship to Clinical Parameters in Sporadic Conventional Renal Cell Carcinoma

49. Supplementary Table 2 from Genetic and Epigenetic Analysis of von Hippel-Lindau (VHL) Gene Alterations and Relationship with Clinical Variables in Sporadic Renal Cancer

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