1,667 results on '"Maher, Eamonn R"'
Search Results
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
4. Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome
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
7. Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach
8. Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort
9. Paediatric research sets new standards for therapy in paediatric and adult cholestasis
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
13. Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update
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
16. Description and cross-sectional analyses of 25,880 adults and children in the UK National Registry of Rare Kidney Diseases cohort
17. Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort
18. A systematic review assessing the existence of pneumothorax-only variants of FLCN. Implications for lifelong surveillance of renal tumours
19. Wilms tumour resulting from paternal transmission of a TRIM28 pathogenic variant - A first report
20. Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals
21. Familial Syndromes and Genetic Causes of Paraganglioma and Phaeochromocytoma
22. Genetics of Phaeochromocytomas, Paragangliomas, and Neuroblastoma
23. When should we offer antenatal sequencing for urinary tract malformations? A systematic review, cohort study and meta‐analysis
24. The role of [68 Ga]Ga-DOTATATE PET/CT in wild-type KIT/PDGFRA gastrointestinal stromal tumours (GIST)
25. Dysregulation at multiple points of the kynurenine pathway is a ubiquitous feature of renal cancer: implications for tumour immune evasion
26. von Hippel-Lindau Disease: an Update
27. Paediatric research sets new standards for therapy in paediatric and adult cholestasis
28. Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies
29. Genomic imprinting disorders: lessons on how genome, epigenome and environment interact
30. Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and management
31. Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33
32. X-linked cataract and Nance-Horan syndrome are allelic disorders
33. Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract.
34. Eye
35. Musculoskeletal System
36. Skin
37. Blood and Lymph
38. Urinary System
39. Reproductive System
40. Gastrointestinal System
41. Cardiorespiratory System and Thorax
42. Endocrine System
43. Central Nervous System
44. Inherited Cancer-Predisposing Syndomes
45. Diagnosis and Management of Hereditary Renal Cell Cancer
46. Wilms tumour resulting from paternal transmission of a TRIM28pathogenic variant—A first report
47. The Novel Rho-GTPase Activating Gene MEGAP/srGAP3 Has a Putative Role in Severe Mental Retardation
48. When should we offer antenatal sequencing for urinary tract malformations? A systematic review, cohort study and meta‐analysis.
49. Preferential MGMT hypermethylation in SDH-deficient wild-type GIST.
50. Beckwith–Wiedemann Spectrum
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