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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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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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ZMIZ1-associated neurodevelopmental disorder and Hirschsprung disease
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- Contribution to journal › Article
- 2020
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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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Four evolutionary trajectories underlie genetic intratumoral variation in childhood cancer
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- Contribution to journal › Article
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Convergent evolution of 11p allelic loss in multifocal Wilms tumors arising in WT1 mutation carriers
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- Contribution to journal › Article
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PREPL deficiency : Delineation of the phenotype and development of a functional blood assay
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- Contribution to journal › Article
- 2017
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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
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- Contribution to journal › Article
- 2016
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Genetic heterogeneity in rhabdomyosarcoma revealed by SNP array analysis.
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- Contribution to journal › Article
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Genomic profiling and directed ex vivo drug analysis of an unclassifiable myelodysplastic/myeloproliferative neoplasm progressing into acute myeloid leukemia
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- Contribution to journal › Article
- 2015
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Intratumoral genome diversity parallels progression and predicts outcome in pediatric cancer.
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- Contribution to journal › Article
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Neuroblastoma Patient-Derived Orthotopic Xenografts Retain Metastatic Patterns and Geno- and Phenotypes of Patient Tumours.
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- Contribution to journal › Article
- 2009
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Mark
Telomeric associations correlate with telomere length reduction and clonal chromosome aberrations in giant cell tumor of bone.
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- Contribution to journal › Article
- 2008
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Tiling resolution array CGH and high density expression profiling of urothelial carcinomas delineate genomic amplicons and candidate target genes specific for advanced tumors.
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- Contribution to journal › Article
- 2007
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Mark
Distinct mitotic segregation errors mediate chromosomal instability in aggressive urothelial cancers.
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- Contribution to journal › Article
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Characterisation of genomic translocation breakpoints and identification of an alternative TCF3/PBX1 fusion transcript in t(1;19)(q23;p13)-positive acute lymphoblastic leukaemias.
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- Contribution to journal › Article
- 2005
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Mark
Structural and numerical chromosome changes in colon cancer develop through telomere-mediated anaphase bridges, not through mitotic multipolarity.
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- Contribution to journal › Article
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Microarray analyses reveal strong influence of DNA copy number alterations on the transcriptional patterns in pancreatic cancer: implications for the interpretation of genomic amplifications.
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- Contribution to journal › Article
- 2004
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Retained heterodisomy for chromosome 12 in atypical lipomatous tumors: implications for ring chromosome formation.
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- Contribution to journal › Article
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Mark
Genome-wide array-based comparative genomic hybridization reveals multiple amplification targets and novel homozygous deletions in pancreatic carcinoma cell lines.
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- Contribution to journal › Article