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مقالات بقلم الدكتورة الاستشارية وفاء العييد
جديد الأبحاث
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
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
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