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149 results on '"Tawfeg Ben Omran"'

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1. Neuropsychiatric profile in tuberous sclerosis complex patients with epilepsy

2. The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region

3. Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region

5. Farber Disease Mimicking Juvenile Idiopathic Arthritis: The First Reported Case in Qatar and Review of the Literature

6. A breakthrough effect of gene replacement therapy on respiratory outcomes in children with spinal muscular atrophy

8. Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review

9. Optimising care and follow-up of adults with achondroplasia

10. The first European consensus on principles of management for achondroplasia

11. Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

12. Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition

13. Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations

14. Prevalence and profile of inherited metabolic disorders in Libya: single center experience

15. The re-occurrence of dilated cardiomyopathy in propionic acidemia after liver transplantation requiring heart transplant, first case from Middle East

16. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study

17. Analysis of the Qatari R336C cystathionine β‐synthase protein in mice

18. Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience

19. Clinical Exome Sequencing unravels new disease-causing mutations in the myeloproliferative neoplasms: A pilot study in patients from the state of Qatar

20. Expanding on the phenotypic spectrum of Woodhouse-Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar and literature review

21. Author response for 'Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins'

22. Loss of MANF Causes Childhood Onset Syndromic Diabetes due to Increased Endoplasmic Reticulum Stress

23. Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI-anchored proteins

25. Gene therapy for spinal muscular atrophy: the Qatari experience

26. Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress

27. Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition

28. Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis

29. Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability

30. Further delineation of HIDEA syndrome

31. Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism

32. Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies

33. Cancer genetics program: Follow‐up on clinical genetics and genomic medicine in Qatar

34. Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies

35. Molecular autopsy in maternal–fetal medicine

36. Clinical and Molecular Characterization of Qatari Patients with Inherited Dysfibrinogenemia

37. GWAS signals revisited using human knockouts

38. Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients

39. Homozygous nonsense mutation in SCHIP1/IQCJ-SCHIP1 causes a neurodevelopmental brain malformation syndrome

40. Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders

41. Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia

42. Clinical and molecular characterization of 6 children with glutamate-cysteine ligase deficiency causing hemolytic anemia

43. Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy

44. Response to Hall et al

45. Approach to Neurometabolic Disorders in the Genomic Era

46. Point of Care Exome Sequencing Reveals Allelic and Phenotypic Heterogeneity Underlying Mendelian disease in Qatar

47. Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome

48. Effects of consanguinity in a cohort of subjects with certain genetic disorders in Qatar

49. Real-World Outcomes with Lomitapide Use in Paediatric Patients with Homozygous Familial Hypercholesterolaemia

50. Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

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