Emma Mårtensson (Former)
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- 2019
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Mark
Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition
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- Contribution to journal › Article
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Mark
Low prevalence of known pathogenic mutations in dominant PD genes : A Swedish multicenter study
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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
- 2016
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Mark
Comprehensive genetic analysis of a pediatric pleomorphic myxoid liposarcoma reveals near-haploidization and loss of the RB1 gene.
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- Contribution to journal › Article