Suchergebnis | Hamburg Open Science

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3 Einträge gefunden

Adult osteosclerotic metaphyseal dysplasia with progressive osteonecrosis of the jaws and abnormal bone resorption pattern due to a LRRK1 splice site mutation
2020 - Forschungsinformationssystem des UKE
Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies
2019 - Forschungsinformationssystem des UKE
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis
2018 - Forschungsinformationssystem des UKE - frei zugänglich