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A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene
British Library Online Contents | 2016| -
An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome
British Library Online Contents | 2015| -
Exomsequenzierung zur Identifizierung von Krankheitsgenen für seltene Syndrome
British Library Online Contents | 2014|
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