about
Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleusMice expressing mutant Trpv4 recapitulate the human TRPV4 disordersExome sequencing identifies PDE4D mutations in acrodysostosisAngiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.Exome Sequence Analysis of 14 Families With High Myopia.Assaying the Effects of Splice Site Variants by Exon Trapping in a Mammalian Cell Line.Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.Ellis-van Creveld syndrome resulting from segmental uniparental disomy of chromosome 4.Angiopoietin-1 is required for Schlemm's canal development in mice and humans.Reduced penetrance in a large Caucasian pedigree with Stickler syndrome.Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive errorIn-utero epigenetic factors are associated with early-onset myopia in young childrenGenetic variants linked to myopic macular degeneration in persons with high myopia: CREAM Consortium
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Stuart W Tompson
@en
Stuart W Tompson
@es
Stuart W Tompson
@nl
Stuart W Tompson
@sl
type
label
Stuart W Tompson
@en
Stuart W Tompson
@es
Stuart W Tompson
@nl
Stuart W Tompson
@sl
prefLabel
Stuart W Tompson
@en
Stuart W Tompson
@es
Stuart W Tompson
@nl
Stuart W Tompson
@sl
P108
P106
P108
P31
P496
0000-0001-9788-6730