77 results on '"Eyaid, Wafaa"'
Search Results
2. Further delineation of Wiedemann‐Rautenstrauch syndrome linked with POLR3A
3. Case report: A founder UGDH variant associated with developmental epileptic encephalopathy in Saudi Arabia
4. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
5. A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients
6. Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency
7. Spinal muscular atrophy carrier frequency in Saudi Arabia
8. Genetic impact of non-consanguineous marriages in Saudi Arabia
9. RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis
10. HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients
11. Genetic impact of non-consanguineous marriages in Saudi Arabia.
12. Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism
13. Population-based Carrier Screening for Spinal Muscular Atrophy in Saudi Arabia
14. Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial
15. Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia
16. Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders
17. Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy
18. Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy
19. A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features
20. The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data
21. Loss of C2orf69 defines a fatal auto-inflammatory mitochondriopathy in Humans and Zebrafish
22. Pulmonary Manifestations in a Patient with Transaldolase Deficiency
23. Amended Informative Negative Whole Exome Sequencing Results
24. Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort
25. Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy
26. Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort
27. NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation
28. What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations
29. PDCD6IP , encoding a regulator of the ESCRT complex, is mutated in microcephaly
30. Front Cover
31. Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15
32. Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome
33. 6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects
34. 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
35. Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15
36. Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients
37. The many faces of peroxisomal disorders: Lessons from a large Arab cohort
38. Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing
39. Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients
40. Molecular autopsy in maternal–fetal medicine
41. Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients
42. A new association between CDK5RAP2 microcephaly and congenital cataracts
43. X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report
44. A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield
45. Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula
46. Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders
47. A missense mutation in theCRBNgene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family
48. Clinical exome sequencing: results from 2819 samples reflecting 1000 families
49. Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia
50. A pilot study of spinal muscular atrophy carrier screening in Saudi Arabia
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