Emil Alexov to Male
This is a "connection" page, showing publications Emil Alexov has written about Male.
Connection Strength
0.084
-
A missense mutation in CLIC2 associated with intellectual disability is predicted by in silico modeling to affect protein stability and dynamics. Proteins. 2011 Aug; 79(8):2444-54.
Score: 0.020
-
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy. Nat Commun. 2020 07 23; 11(1):3698.
Score: 0.010
-
Three additional patients with EED-associated overgrowth: potential mutation hotspots identified? J Hum Genet. 2019 Jun; 64(6):561-572.
Score: 0.009
-
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: 0.008
-
Identification and characterization of a missense mutation in the O-linked ?-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability. J Biol Chem. 2017 05 26; 292(21):8948-8963.
Score: 0.008
-
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons. Hum Mol Genet. 2015 Sep 01; 24(17):4848-61.
Score: 0.007
-
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: 0.006
-
A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation. Hum Mol Genet. 2014 Jan 15; 23(2):418-33.
Score: 0.006
-
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: 0.006
-
An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity. Hum Mol Genet. 2012 Oct 15; 21(20):4497-507.
Score: 0.005