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- 2022
-
Mark
Extended genetic diagnostics for children with profound sensorineural hearing loss by implementing massive parallel sequencing. Diagnostic outcome, family experience and clinical implementation
(
- Contribution to journal › Article
- 2021
-
Mark
ZMIZ1-associated neurodevelopmental disorder and Hirschsprung disease
(
- Contribution to journal › Article
- 2020
-
Mark
Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism
(
- Contribution to journal › Article