top of page
DR WAFAA EYAID
My Thoughts
New research
Medical awareness
For trainees
In the media
who am I
More
Use tab to navigate through the menu items.
مقالات بقلم الدكتورة الاستشارية وفاء العييد
New research
مقالات بقلم الدكتورة الاستشارية وفاء العييد
مقالا ت 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
The many faces of peroxisomal disorders: Lessons from a large Arab cohort
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
Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients
A new association between CDK5RAP2 microcephaly and congenital cataracts
Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing
Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients
Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula
Molecular autopsy in maternal-fetal medicine
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
Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients
Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients
Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy
Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients
Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy
A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes
bottom of page
