Suchergebnis | Hamburg Open Science

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4 Einträge gefunden

A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction
2017 - Forschungsinformationssystem des UKE
Increased copper toxicity in Saccharomyces cerevisiae lacking VPS35, a component of the retromer and monogenic Parkinson disease gene in humans
2016 - Forschungsinformationssystem des UKE
eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.
2012 - Forschungsinformationssystem des UKE
Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism.
2011 - Forschungsinformationssystem des UKE