قسم علم الوراثة الطبية - كلية الطب
كلية الطب
Influence of matrix metalloproteinase 9 variant rs17576 on ischemic stroke risk and severity in acute coronary syndrome
2024
Sequence Variants in PSMB8/PSMB9 Immunoproteasome Genes and Risk of Urothelial Bladder Carcinoma
Springer, Cureus, 2024
Genotype-Phenotype Correlation of a Rare Transthyretin Variant Causing Amyloidosis
Elseveir, Canadian journal of cardiology, 2022
Phenotypic variability to medication management: an update on fragile X syndrome
BMC, Human genomics, 2024
A Case Report of Inherited DYRK1A Neurodevelopmental Syndrome
Fortune journal, Archives of clinical and medical case reports, 2022
Case Report:X-Linked Creatine Transporter Defciency in Two Saudi Brothers with Autism
Springer, Journal of Autism and Developmental Disorders, 2022
The Role of Genetics, Epigenetics, and the Environment in ASD: A Mini Review
MDPI, Epigenomes, 2022
Genetic etiology and clinical challenges of phenylketonuria
Springer Nature, Human Genomics, 2022
NPHS1 and NPHS2 variants associated with early-onset frequently relapsing or steroid-dependent nephrotic syndrome in the Saudi community
IRIS Publishers, Annals of Urology and Nephrology, 2022
Variations in TAP1 and PSMB9 Genes Involved in Antigen Processing and Presentation Increase the Risk of Vitiligo in the Saudi Community
DovePress, International Journal of General Medicine, 2021
Total anomalous pulmonary venous drainage in association with Kaufman syndrome
Elsevier B.V, Progress in Pediatric Cardiology, 2019
Prenatal-onset INPPL1-related skeletal dysplasia in two unrelated families: Diagnosis and prediction of lethality
John Wiley & Sons Ltd, Clinical Case Reports, 2021
Morquio-B disease: Clinical and genetic characteristics of a distinct GLB1-related dysostosis multiplex
John Wiley & Sons Ltd on behalf of SSIEM, Journal of Inherited Metabolic Disease, 2019