List of works - Majid Alfadhel

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

scientific article published on 15 May 2019

EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay

scientific article published on 01 September 2020

Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients

scientific article published on 17 July 2018

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.

scientific article

Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings.

scientific article published on 22 June 2018

Genetic Disorders Associated with Metal Metabolism

scientific article published on 09 December 2019

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

scientific article published on 19 February 2019

KCNT1-related epilepsy: An international multicenter cohort of 27 pediatric cases

scientific article published on 13 March 2020

MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific database

scientific article published on 13 May 2020

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

scientific article published on 01 April 2019

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

article

Multiple Sulfatase Deficiency: A Case Series With a Novel Mutation

scientific article published on 20 August 2018

Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay

scientific article published on 19 May 2020

PRUNE Syndrome Is a New Neurodevelopmental Disorder: Report and Review

scientific article published on 11 January 2018

Pancytopenia, Recurrent Infection, Poor Wound Healing, Heterotopia of the Brain Probably Associated with A Candidate Novel de Novo CDC42 Gene Defect: Expanding the Molecular and Phenotypic Spectrum

scientific article published on 22 February 2021

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.

scientific article published on 15 September 2016

List of works by Majid Alfadhel