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- 2024
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Mark
SMIM1 absence is associated with reduced energy expenditure and excess weight
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- Contribution to journal › Article
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Mark
An intronic polymorphism associated with 2,3-bisphosphoglycerate levels in human red cells is linked to expression of RhCE blood groups
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- Contribution to journal › Letter
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Genetic counselling legislation and practice in cancer in EU Member States
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- Contribution to journal › Article
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Haplotype analysis identifies functional elements in monoclonal gammopathy of unknown significance
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- Contribution to journal › Article
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Mark
Pregnancy Planning and Genetic Testing: Exploring Advantages, and Challenges
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- Contribution to journal › Scientific review
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Mark
Variant reclassification over time decreases the level of diagnostic uncertainty in monogenic obesity : Experience from two centres
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- Contribution to journal › Article
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Mark
Human monocyte subtype expression of neuroinflammation- and regeneration-related genes is linked to age and sex
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- Contribution to journal › Article
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A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities
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- Contribution to journal › Article
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Mark
Clinicopathologic and molecular study of superficial CD34-positive fibroblastic tumours mimicking atypical fibrous histiocytoma (dermatofibroma)
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- Contribution to journal › Article
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Mark
Feasibility for non-invasive prenatal fetal blood group and platelet genotyping by massively parallel sequencing : A single test system for multiple atypical red cell, platelet and quality control markers
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- Contribution to journal › Article