Majid Alfadhel

45PUBLICATIONS
71CO-AUTHORS
Medical biochemistry - lipidsAutonomic nervous systemChild language acquisitionMedical molecular engineering of nucleic acids and proteinsMedical infection agents (incl. prions)
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Publications (45)

|Jul 27, 2026
Effect of metreleptin treatment in congenital generalized lipodystrophy: a retrospective analysis from the MENA region.

|Dec 31, 2025
Clinical and Genetic Characterization of Hereditary Sensory and Autonomic Neuropathy Type IV in a Consanguineous Population: Identification of Novel NTRK1 Variants and Expansion of Phenotypic Spectrum.

Amal AlHashem, Hanan AlQudairy, Jana Raed

|Dec 04, 2025
Overview of pediatric and adult lysosomal acid lipase deficiency: expert recommendations from a Gulf cooperation council working group.

Moeenaldeen AlSayed, Khalid Al Rasadi, Noura S AlDhaheri

|Nov 03, 2025
Non-Invasive Prenatal Testing in the Kingdom of Saudi Arabia: Current Status of Adoption and Roadmap for the Future.

Majid Alfadhel, Amal AlHashem, Wesam Kurdi

|Oct 07, 2025
Biallelic Variants in TMEM17 Cause Meckel-Gruber Syndrome Within the Ciliopathy Spectrum.

Luba M Pardo, Javier Martini, Emir Zonic

|Jul 31, 2025
Clinical and molecular characterization of hepatic glycogen storage disease in Saudi Arabia.

Abdulrahman Al-Hussaini, Mohammed AlMannai, Muhannad Alruwaithi

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Frequent Collaborators

4 joint publications

Muhammad Umair

4 joint publications

Fowzan S Alkuraya

2 joint publications

Aida Bertoli-Avella

2 joint publications

Brahim Tabarki