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Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Trujillano D, Bertoli-Avella AM, Kumar Kandaswamy K, Weiss ME, Köster J, Marais A, Paknia O, Schröder R, Garcia-Aznar JM, Werber M, Brandau O, Calvo Del Castillo M, Baldi C, Wessel K, Kishore S, Nahavandi N, Eyaid W, Al Rifai MT, Al-Rumayyan A, Al-Twaijri W, Alothaim A, Alhashem A, Al-Sannaa N, Al-Balwi M, Alfadhel M, Rolfs A, Abou Jamra R. Trujillano D, et al. Eur J Hum Genet. 2017 Feb;25(2):176-182. doi: 10.1038/ejhg.2016.146. Epub 2016 Nov 16. Eur J Hum Genet. 2017. PMID: 27848944 Free PMC article.
Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases.
Alfadhel M, Nashabat M, Alrifai MT, Alshaalan H, Al Mutairi F, Al-Shahrani SA, Plecko B, Almass R, Alsagob M, Almutairi FB, Al-Rumayyan A, Al-Twaijri W, Al-Owain M, Taylor RW, Kaya N. Alfadhel M, et al. Eur J Paediatr Neurol. 2018 Jan;22(1):46-55. doi: 10.1016/j.ejpn.2017.10.003. Epub 2017 Oct 16. Eur J Paediatr Neurol. 2018. PMID: 29122497
Clinical Presentation and outcome of acute disseminated encephalomyelitis in Saudi Arabia. Tertiary Center Experience.
Aldamkh BA, Alamer AF, Altuwaijri MM, Alrumayyan MA, Alhaqbani AH, Alharthi NA, Aldamkh SA, Aldrees AS, Alrifai MT, Altuwaijri W, Alrumayyan A. Aldamkh BA, et al. Among authors: alrumayyan a, alrumayyan ma. Neurosciences (Riyadh). 2019 Apr;24(2):89-94. doi: 10.17712/nsj.2019.2.20180017. Neurosciences (Riyadh). 2019. PMID: 31056539 Free PMC article.
Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening.
Alfadhel M, Umair M, Almuzzaini B, Alsaif S, AlMohaimeed SA, Almashary MA, Alharbi W, Alayyar L, Alasiri A, Ballow M, AlAbdulrahman A, Alaujan M, Nashabat M, Al-Odaib A, Altwaijri W, Al-Rumayyan A, Alrifai MT, Alfares A, AlBalwi M, Tabarki B. Alfadhel M, et al. Ann Clin Transl Neurol. 2019 Oct;6(10):2097-2103. doi: 10.1002/acn3.50898. Epub 2019 Sep 26. Ann Clin Transl Neurol. 2019. PMID: 31557427 Free PMC article.
The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data.
Alfadhel M, Almuqbil M, Al Mutairi F, Umair M, Almannai M, Alghamdi M, Althiyab H, Albarakati R, Bashiri FA, Alshuaibi W, Ba-Armah D, Saleh MA, Al-Asmari A, Faqeih E, Altuwaijri W, Al-Rumayyan A, Balwi MA, Ababneh F, Alswaid AF, Eyaid WM, Almontashiri NAM, Alhashem A, Hundallah K, Bertoli-Avella A, Bauer P, Beetz C, Alrifai MT, Alfares A, Tabarki B. Alfadhel M, et al. Front Pediatr. 2021 May 13;9:633385. doi: 10.3389/fped.2021.633385. eCollection 2021. Front Pediatr. 2021. PMID: 34055681 Free PMC article.
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