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Page 1
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
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.
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: al rifai mt.
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.
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Risk factors for isolated periventricular leukomalacia.
Al Tawil KI, El Mahdy HS, Al Rifai MT, Tamim HM, Ahmed IA, Al Saif SA.
Al Tawil KI, et al. Among authors: al rifai mt.
Pediatr Neurol. 2012 Mar;46(3):149-53. doi: 10.1016/j.pediatrneurol.2011.12.008.
Pediatr Neurol. 2012.
PMID: 22353288
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The Neurological Outcome of Isolated PVL and Severe IVH in Preterm Infants: Is It Fair to Compare?
Al Rifai MT, Al Tawil KI.
Al Rifai MT, et al.
Pediatr Neurol. 2015 Nov;53(5):427-33. doi: 10.1016/j.pediatrneurol.2015.04.004. Epub 2015 May 22.
Pediatr Neurol. 2015.
PMID: 26476149
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An inborn error of metabolism presenting as hypoxic-ischemic insult.
Eyaid WM, Al-Nouri DM, Rashed MS, Al-Rifai MT, Al-Wakeel AS.
Eyaid WM, et al. Among authors: al rifai mt.
Pediatr Neurol. 2005 Feb;32(2):134-6. doi: 10.1016/j.pediatrneurol.2004.07.010.
Pediatr Neurol. 2005.
PMID: 15664777
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