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925 results on '"Maher, Eamonn R"'

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

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

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

6. Imprinting disorders

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

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

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

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

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

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

19. Dysregulation at multiple points of the kynurenine pathway is a ubiquitous feature of renal cancer: implications for tumour immune evasion

24. Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33

25. X-linked cataract and Nance-Horan syndrome are allelic disorders

26. Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract.

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

31. Health and population effects of rare gene knockouts in adult humans with related parents

32. Prenatal Exome Sequencing Analysis in Fetal Structural Anomalies Detected by Ultrasonography (PAGE): A Cohort Study

33. SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice

35. Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling

36. Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency

37. Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review

38. Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

42. Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study

43. Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

45. HUMAN GENOMICS: Health and population effects of rare gene knockouts in adult humans with related parents

46. Characterization of endolymphatic sac tumors and von Hippel–Lindau disease in the International Endolymphatic Sac Tumor Registry

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

49. Cost-effectiveness model of renal cell carcinoma (RCC) surveillance in hereditary leiomyomatosis and renal cell carcinoma (HLRCC).

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