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1. De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

4. The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery

6. Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

8. The VASCERN PPL working group patient pathway for primary and paediatric lymphoedema

9. Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

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

12. Genetic association analysis of 77,539 genomes reveals rare disease etiologies

13. Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome

15. Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals’ views and experiences

16. Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function

17. Paediatric lymphoedema: An audit of patients seen by the paediatric and primary lymphoedema group of vascular European Reference Network (VASCERN)

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

19. Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study

23. Medische diagnostiek

24. Prevalence of Ocular Toxoplasmosis in the General Population and Uveitis Patients: A Systematic Review and Meta-Analysis.

25. Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.

26. Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes

28. Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

30. The VASCERN PPL working group patient pathway for primary and paediatric lymphoedema

31. Insights intoKIF11pathogenesis in Microcephaly-Lymphedema-Chorioretinopathy syndrome: a lymphatic perspective

33. Erythematous capillary-lymphatic malformations mimicking blood vascular anomalies

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

38. Biallelic mutations in NRROS cause an early onset lethal microgliopathy

41. Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

42. Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

43. Guidelines for the diagnosis and management of adult aplastic anaemia: A British Society for Haematology Guideline.

44. Small-molecule functional rescue of PIEZO1 channel variants associated with generalised lymphatic dysplasia

46. List of Contributors

49. List of contributors

50. Global Studies About the Corporate Social Responsibility (CSR)

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