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Papers published by Prof. Dr. Majid Alfadhel:
Non-Invasive Prenatal Testing in the Kingdom of Saudi Arabia: Current Status of Adoption and Roadmap for the Future
Alfadhel M, AlHashem A, Kurdi W, Tulbah M, AlGamdi S, Almannai M, AlAmoudi I, AlEissa MM, AlAgil N, Tashkandi S, Awad N, Ojeil R
The Application of Clinical Genetics 2025, 18:219-231
Published Date: 27 October 2025
First Report from Saudi Arabia of Trimethylaminuria Caused by a Premature Stop Codon Mutation in the FMO3 Gene
Alghanem B, Alamri HS, Barhoumi T, Ali Khan I, Almuhalhil K, Aloyouni E, Shaibah H, Mashhour A, Algheribe S, Islam I, Boudjelal M, Alfadhel M
The Application of Clinical Genetics 2024, 17:215-228
Published Date: 31 December 2024
Consanguinity and Occurrence of Monogenic Diseases in a Single Tertiary Centre in Riyadh, Saudi Arabia: A 2 Years Cross-Sectional Study
Alshamlani LK, Alsulaim DS, Alabbad RS, Alhoshan AA, Alkhoder JF, Alsaleh NS, Almannai M, Ababneh F, Algattan M, Alsini L, Alswaid AF, Eyaid WM, Al Mutairi F, Umair M, Alfadhel M
The Application of Clinical Genetics 2024, 17:151-158
Published Date: 3 October 2024
Isolated Palmoplantar Lentiginosis
Alghubaywi F, AlJasser MI, Alfadhel M, Almohanna HM
Clinical, Cosmetic and Investigational Dermatology 2023, 16:1653-1657
Published Date: 27 June 2023
Aortic calcification in Gaucher disease: a case report
Alsahli S, Bubshait DK, Rahbeeni ZA, Alfadhel M
The Application of Clinical Genetics 2018, 11:107-110
Published Date: 17 October 2018
Tetrasomy 18p: case report and review of literature
Bawazeer S, Alshalan M, Alkhaldi A, AlAtwi N, AlBalwi M, Alswaid A, Alfadhel M
The Application of Clinical Genetics 2018, 11:9-14
Published Date: 8 February 2018
Methionine adenosyltransferase I/III deficiency: beyond the central nervous system manifestations
Nashabat M, Al-Khenaizan S, Alfadhel M
Therapeutics and Clinical Risk Management 2018, 14:225-229
Published Date: 2 February 2018
Pulmonary hypertension and vasculopathy in incontinentia pigmenti: a case report
Alshenqiti A, Nashabat M, AlGhoraibi H, Tamimi O, Alfadhel M
Therapeutics and Clinical Risk Management 2017, 13:629-634
Published Date: 9 May 2017
Guidelines for acute management of hyperammonemia in the Middle East region
Alfadhel M, Al Mutairi F, Makhseed N, Al Jasmi F, Al-Thihli K, Al-Jishi E, AlSayed M, Al-Hassnan ZN, Al-Murshedi F, Häberle J, Ben-Omran T
Therapeutics and Clinical Risk Management 2016, 12:479-487
Published Date: 31 March 2016
Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis
Alfadhel M, Saleh N, Alenazi H, Baffoe-Bonnie H
Neuropsychiatric Disease and Treatment 2014, 10:2135-2137
Published Date: 12 November 2014