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59 results on '"Hanna Faghfoury"'

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1. Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populations

3. P541: Development of a provincial genetics program in Ontario

5. P574: Summary of findings from comprehensive genome sequencing performed in a healthy population cohort

6. P709: Self reported vs genetic ancestry from the GENCOV COVID-19 genomic sequencing study

7. P710: Phenome-wide association study (PheWAS) for the Canadian HostSeq Biobank

8. P733: Comparative analysis of DNA variant classifications between the GENCOV COVID-19 genome study and the ClinVar database

9. P357: Replication of genetic variation associated with COVID-19 clinical outcomes: The GENCOV Prospective Cohort Study

10. P436: Population genome screening identifies previously undiagnosed disease: A case series

11. The GoodHope Ehlers Danlos Syndrome Clinic: development and implementation of the first interdisciplinary program for multi-system issues in connective tissue disorders at the Toronto General Hospital

12. Characterizing Risk Factors for Hospitalization and Clinical Characteristics in a Cohort of COVID-19 Patients Enrolled in the GENCOV Study

13. Genetics Adviser: a protocol for a mixed-methods randomised controlled trial evaluating a digital platform for genetics service delivery

14. A case of secondary acute myeloid leukemia on a background of glycogen storage disease with chronic neutropenia treated with granulocyte colony stimulating factor

15. Implementation of serological and molecular tools to inform COVID-19 patient management: protocol for the GENCOV prospective cohort study

16. Effects of Rhythmic Sensory Stimulation on Ehlers–Danlos Syndrome: A Pilot Study

17. A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C

18. Genome screening, reporting, and genetic counseling for healthy populations

19. Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data

20. Genome Reporting for Healthy Populations-Pipeline for Genomic Screening from the GENCOV COVID-19 Study

21. The phenotypic spectrum of <scp> AMER1 </scp> ‐related osteopathia striata with cranial sclerosis: The first Canadian cohort

23. High Rates of Genetic Diagnosis in Psychiatric Patients with and without Neurodevelopmental Disorders: Toward Improved Genetic Diagnosis in Psychiatric Populations

24. Using a Digital Multimedia Platform to Teach Anatomical Sciences

25. Genetics Adviser: a protocol for a mixed-methods randomised controlled trial evaluating a digital platform for genetics service delivery

26. Genome Screening, Reporting and Counseling for Healthy Populations

27. A case of secondary acute myeloid leukemia on a background of glycogen storage disease with chronic neutropenia treated with granulocyte colony stimulating factor

28. eP325: Medically actionable DNA variation from the GENCOV COVID-19 Genome Sequencing Study

29. eP294: Return of genome sequencing results in ostensibly healthy COVID-19 positive individuals: GENCOV Study Canada

30. Genetics of hypogonadotropic hypogonadism

31. Characterization of VHL promoter variants in patients suspected of Von Hippel-Lindau disease

32. eP299: Genetics adviser: The development and usability testing of a new patient-centered digital health application to support clinical genomic testing

33. A comprehensive genome report for COVID-19 patients: GENCOV Study Canada

34. Long-term outcome of patients with X-linked adrenoleukodystrophy: A retrospective cohort study

35. Genetic generalized epilepsy in three siblings with 8q21.13-q22.2 duplication

37. Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study

38. Carnitine uptake defect due to a 5'UTR mutation in a pedigree with false positives and false negatives on Newborn screening

39. Mitochondrial Encephalopathy With Lactic Acidosis and Stroke-like Episodes (MELAS) May Respond to Adjunctive Ketogenic Diet

40. Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)

41. Late-Onset Ornithine Transcarbamylase Deficiency Presenting With Asymptomatic Liver Dysfunction

42. Deep brain stimulation for the management of seizures in MECP2 duplication syndrome

43. Mandibulofacial Dysostosis with Microcephaly:Mutation and Database Update

44. Psychiatric disorders in Ehlers-Danlos syndrome are frequent, diverse and strongly associated with pain

45. Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature

46. Practical guidelines for managing adults with 22q11.2 deletion syndrome

47. Reply from the authors

48. YIELD OF GENETIC TESTING IN PATIENTS WITH THORACIC AORTIC DISEASE

49. MRI findings of adult maple syrup urine disease exacerbation

50. PhenoTips: patient phenotyping software for clinical and research use

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