Emil Alexov to Adult
This is a "connection" page, showing publications Emil Alexov has written about Adult.
Connection Strength
0.039
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Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy. Nat Commun. 2020 07 23; 11(1):3698.
Score: 0.013
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Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects. Eur J Hum Genet. 2018 03; 26(3):420-427.
Score: 0.011
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A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease. J Alzheimers Dis. 2014; 39(1):23-7.
Score: 0.008
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A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome. Hum Mol Genet. 2013 Sep 15; 22(18):3789-97.
Score: 0.008