about
Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acidMutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing lossLoss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid featuresA mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.Stimulators of the soluble guanylyl cyclase: promising functional insights from rare coding atherosclerosis-related GUCY1A3 variants.
P50
description
researcher
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wetenschapper
@nl
հետազոտող
@hy
name
Simon von Ameln
@en
Simon von Ameln
@es
Simon von Ameln
@nl
Simon von Ameln
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type
label
Simon von Ameln
@en
Simon von Ameln
@es
Simon von Ameln
@nl
Simon von Ameln
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prefLabel
Simon von Ameln
@en
Simon von Ameln
@es
Simon von Ameln
@nl
Simon von Ameln
@sl
P106
P2038
Simon_Von_Ameln
P21
P31
P496
0000-0002-2242-3165