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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
- 2018
-
Mark
PREPL deficiency : Delineation of the phenotype and development of a functional blood assay
(
- Contribution to journal › Article
- 2016
-
Mark
Genetic heterogeneity in rhabdomyosarcoma revealed by SNP array analysis.
(
- Contribution to journal › Article
- 2015
-
Mark
Intratumoral genome diversity parallels progression and predicts outcome in pediatric cancer.
(
- Contribution to journal › Article