All Stories

  1. MYT1L mutation in a patient causes intellectual disability and early onset of obesity: a case report and review of the literature

    Article • Journal of Pediatric Endocrinology and Metabolism, April 2019, De Gruyter

    Majid ALFADHEL

  2. Biallelic SCN2A Gene Mutation Causing Early Infantile Epileptic Encephalopathy: Case Report and Review

    Article • Journal of Central Nervous System Disease, January 2019, SAGE Publications

    Majid ALFADHEL

  3. Glycine Transporter 1 Encephalopathy From Biochemical Pathway to Clinical Disease: Review

    Article • Child Neurology Open, January 2019, SAGE Publications

    Majid ALFADHEL

  4. Multiple Mitochondrial Dysfunctions Syndrome 4 Due to ISCA2 Gene Defects: A Review

    Article • Child Neurology Open, January 2019, SAGE Publications

    Majid ALFADHEL

  5. Novel homozygous mutation in the WWOX gene causes seizures and global developmental delay: Report and review

    Article • Translational Neuroscience, December 2018, De Gruyter

    Majid ALFADHEL

  6. Aortic calcification in Gaucher disease: a case report

    Article • The Application of Clinical Genetics, October 2018, Dove Medical Press

    Majid ALFADHEL, ZUHAIR Rahbeeni

  7. Multiple Sulfatase Deficiency: A Case Series With a Novel Mutation

    Article • Journal of Child Neurology, August 2018, SAGE Publications

    Majid ALFADHEL

  8. Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients

    Article • Journal of Child Neurology, July 2018, SAGE Publications

    Majid ALFADHEL

  9. Methionine adenosyltransferase I/III deficiency: beyond the central nervous system manifestations

    Article • Therapeutics and Clinical Risk Management, February 2018, Dove Medical Press

    Majid ALFADHEL

  10. Tetrasomy 18p: case report and review of literature

    Article • The Application of Clinical Genetics, February 2018, Dove Medical Press

    Majid ALFADHEL, Dr Mohammed A Al Balwi, Maha Alshalan

  11. PRUNE Syndrome Is a New Neurodevelopmental Disorder

    Article • Child Neurology Open, January 2018, SAGE Publications

    Majid ALFADHEL

  12. Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4

    Article • Journal of Central Nervous System Disease, January 2018, SAGE Publications

    Majid ALFADHEL

  13. Pulmonary hypertension and vasculopathy in incontinentia pigmenti: a case report

    Article • Therapeutics and Clinical Risk Management, May 2017, Dove Medical Press

    Dr. Omar R.J Tamimi, Abduljabbar Alshenqiti, Majid ALFADHEL

  14. Psychological Assessment of Patients With Biotin-Thiamine-Responsive Basal Ganglia Disease

    Article • Child Neurology Open, January 2017, SAGE Publications

    Majid ALFADHEL

  15. Early Infantile Leigh-like SLC19A3 Gene Defects Have a Poor Prognosis: Report and Review

    Article • Journal of Central Nervous System Disease, January 2017, SAGE Publications

    Majid ALFADHEL

  16. Guidelines for acute management of hyperammonemia in the Middle East region

    Article • Therapeutics and Clinical Risk Management, March 2016, Dove Medical Press

    Fathiya Al Murshedi, Majid ALFADHEL

  17. Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis

    Article • November 2014, Taylor & Francis

    Dr Majid Alfadhel, Majid ALFADHEL