3 Result(s)
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Helena Gásdal Karstensen
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Article
Open AccessAssessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA
Vascular anomalies caused by somatic (postzygotic) variants are clinically and genetically heterogeneous diseases with overlap** or distinct entities. The genetic knowledge in this field is rapidly growing, ...
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Article
Open AccessIdentification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients
Mohr-Tranebjærg syndrome is an X-linked syndrome characterized by sensorineural hearing impairment in childhood, followed by progressive neurodegeneration leading to a broad phenotypic spectrum. Genetically MT...
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Article
Congenital olfactory impairment is linked to cortical changes in prefrontal and limbic brain regions
The human sense of smell is closely associated with morphological differences of the fronto-limbic system, specifically the piriform cortex and medial orbitofrontal cortex (mOFC). Still it is unclear whether c...
