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89 results

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Broader geographical spectrum of Cohen syndrome due to COH1 mutations.
Mochida GH, Rajab A, Eyaid W, Lu A, Al-Nouri D, Kosaki K, Noruzinia M, Sarda P, Ishihara J, Bodell A, Apse K, Walsh CA. Mochida GH, et al. Among authors: eyaid w. J Med Genet. 2004 Jun;41(6):e87. doi: 10.1136/jmg.2003.014779. J Med Genet. 2004. PMID: 15173253 Free PMC article. No abstract available.
Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients.
Williams M, Valayannopoulos V, Altassan R, Chung WK, Heijboer AC, Keng WT, Lapatto R, McClean P, Mulder MF, Tylki-Szymańska A, Walenkamp ME, Alfadhel M, Alakeel H, Salomons GS, Eyaid W, Wamelink MMC. Williams M, et al. Among authors: eyaid w. J Inherit Metab Dis. 2019 Jan;42(1):147-158. doi: 10.1002/jimd.12036. J Inherit Metab Dis. 2019. PMID: 30740741
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
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.
89 results