Suchergebnis | Hamburg Open Science

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5 Einträge gefunden

Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism
2021 - Forschungsinformationssystem des UKE
A genomic exploration identifies mechanisms that may explain adverse cardiovascular effects of COX-2 inhibitors
2017 - Forschungsinformationssystem des UKE
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
2011 - Forschungsinformationssystem des UKE
Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid.
2011 - Forschungsinformationssystem des UKE
Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.
2010 - Forschungsinformationssystem des UKE