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- 2024
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Mark
Disruption of the TP53 locus in osteosarcoma leads to TP53 promoter gene fusions and restoration of parts of the TP53 signalling pathway
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- Contribution to journal › Article
- 2022
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Mark
Extended genetic diagnostics for children with profound sensorineural hearing loss by implementing massive parallel sequencing. Diagnostic outcome, family experience and clinical implementation
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- Contribution to journal › Article
- 2021
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Mark
ZMIZ1-associated neurodevelopmental disorder and Hirschsprung disease
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- Contribution to journal › Article
- 2020
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Mark
Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism
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- Contribution to journal › Article
- 2018
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Mark
PREPL deficiency : Delineation of the phenotype and development of a functional blood assay
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- Contribution to journal › Article