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DR WAFAA EYAID

مقالات بقلم الدكتورة الاستشارية وفاء العييد

New research

مقالات بقلم الدكتورة الاستشارية وفاء العييد

مقالات بقلم الدكتورة الاستشارية وفاء العييد

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15

6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects

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The many faces of peroxisomal disorders: Lessons from a large Arab cohort

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A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients

Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development

The many faces of peroxisomal disorders: Lessons from a large Arab cohort

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

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A new association between CDK5RAP2 microcephaly and congenital cataracts

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Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing

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Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients

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Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula

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Molecular autopsy in maternal-fetal medicine

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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

Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients

Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing

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Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients

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Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients

Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy

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

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Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy

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A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients

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A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield

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The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

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