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Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Bertoli-Avella AM, Kandaswamy KK, Khan S, Ordonez-Herrera N, Tripolszki K, Beetz C, Rocha ME, Urzi A, Hotakainen R, Leubauer A, Al-Ali R, Karageorgou V, Moldovan O, Dias P, Alhashem A, Tabarki B, Albalwi MA, Alswaid AF, Al-Hassnan ZN, Alghamdi MA, Hadipour Z, Hadipour F, Al Hashmi N, Al-Gazali L, Cheema H, Zaki MS, Hüning I, Alfares A, Eyaid W, Al Mutairi F, Alfadhel M, Alkuraya FS, Al-Sannaa NA, AlShamsi AM, Ameziane N, Rolfs A, Bauer P. Bertoli-Avella AM, et al. Among authors: eyaid w. Genet Med. 2021 Aug;23(8):1551-1568. doi: 10.1038/s41436-021-01159-0. Epub 2021 Apr 19. Genet Med. 2021. PMID: 33875846 Free PMC article.
Congenital duplication of the palm syndrome.
Al-Qattan MM, Eyaid W, Al-Balwi M. Al-Qattan MM, et al. Among authors: eyaid w. Ann Plast Surg. 2007 Sep;59(3):341-3. doi: 10.1097/01.sap.0000251486.89375.03. Ann Plast Surg. 2007. PMID: 17721228
Drug treatment of inborn errors of metabolism: a systematic review.
Alfadhel M, Al-Thihli K, Moubayed H, Eyaid W, Al-Jeraisy M. Alfadhel M, et al. Among authors: eyaid w. Arch Dis Child. 2013 Jun;98(6):454-61. doi: 10.1136/archdischild-2012-303131. Epub 2013 Mar 26. Arch Dis Child. 2013. PMID: 23532493 Free PMC article. Review.
Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases.
Alfadhel M, Almuntashri M, Jadah RH, Bashiri FA, Al Rifai MT, Al Shalaan H, Al Balwi M, Al Rumayan A, Eyaid W, Al-Twaijri W. Alfadhel M, et al. Among authors: eyaid w. Orphanet J Rare Dis. 2013 Jun 6;8:83. doi: 10.1186/1750-1172-8-83. Orphanet J Rare Dis. 2013. PMID: 23742248 Free PMC article. Review.
Mucolipidosis II: first report from Saudi Arabia.
Alfadhel M, AlShehhi W, Alshaalan H, Al Balwi M, Eyaid W. Alfadhel M, et al. Among authors: eyaid w. Ann Saudi Med. 2013 Jul-Aug;33(4):382-6. doi: 10.5144/0256-4947.2013.382. Ann Saudi Med. 2013. PMID: 24060719 Free PMC article.
84 results