308 results on '"Eyaid, Wafaa"'
Search Results
2. Helsmoortel-Van der Aa syndrome in a 13-year-old girl with autistic spectrum disorder, dysmorphism, a right solitary kidney, and polycystic ovaries: a case report
3. Consanguinity and Occurrence of Monogenic Diseases in a Single Tertiary Centre in Riyadh, Saudi Arabia: A 2 Years Cross-Sectional Study.
4. Genetic Microcephaly in a Saudi Population: Unique Spectrum of Affected Genes Including a Novel One
5. Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders
6. Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy
7. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
8. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
9. A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features
10. Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy
11. A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients
12. Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort
13. Further delineation of Wiedemann‐Rautenstrauch syndrome linked with POLR3A
14. Case report: A founder UGDH variant associated with developmental epileptic encephalopathy in Saudi Arabia
15. Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort
16. Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency
17. Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial
18. 6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects
19. RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis
20. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
21. Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing
22. Molecular autopsy in maternal–fetal medicine
23. Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients
24. Mutations in PNKP cause microcephaly, seizures and defects in DNA repair
25. Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia
26. A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield
27. What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations
28. Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism
29. Pulmonary Manifestations in a Patient with Transaldolase Deficiency
30. A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients
31. Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial
32. Clinical and Molecular Characteristics of Mitochondrial DNA Depletion Syndrome Associated with Neonatal Cholestasis and Liver Failure
33. Atypical down syndrome features with an atypical chromosomal rearrangement: a case report.
34. Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency
35. Spinal muscular atrophy carrier frequency in Saudi Arabia
36. Genetic impact of non-consanguineous marriages in Saudi Arabia
37. Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance
38. HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients
39. LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome
40. Erratum: Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy (The American Journal of Human Genetics (2021) 108(7) (1301–1317), (S0002929721001877), (10.1016/j.ajhg.2021.05.003))
41. Population-based Carrier Screening for Spinal Muscular Atrophy in Saudi Arabia
42. Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype
43. Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia
44. LRP4 mutations alter Wnt/[beta]-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome
45. The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data
46. Loss of C2orf69 defines a fatal auto-inflammatory mitochondriopathy in Humans and Zebrafish
47. NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation and hyperinflammation Running title: NCKAP1L deficiency
48. Additional file 2 of What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations
49. Additional file 1 of What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations
50. The Genetic Basis of a Craniofacial Disease Provides Insight into COPII Coat Assembly
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