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- 2019
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Mark
Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene
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- Contribution to journal › Article
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Mark
Att inte debattera är inte ett alternativ
2019) In Svenska Dagbladet, Stockholm(
- Contribution to specialist publication or newspaper › Newspaper article
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Mark
Cellular alterations identified in pluripotent stem cell-derived midbrain spheroids generated from a female patient with progressive external ophthalmoplegia and parkinsonism who carries a novel variation (p.Q811R) in the POLG1 gene
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- Contribution to journal › Article
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Mark
Idiopathic ventricular fibrillation – Long term prognosis in relation to clinical findings and ECG patterns in a Swedish cohort
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- Contribution to journal › Article
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Mark
Most gene fusions in cancer are stochastic events
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- Contribution to journal › Article
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Mark
A urinary extracellular vesicle microRNA biomarker discovery pipeline; from automated extracellular vesicle enrichment by acoustic trapping to microRNA sequencing
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- Contribution to journal › Article
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Mark
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification
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- Contribution to journal › Article
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Mark
Arrayed molecular barcoding identifies TNFSF13 as a positive regulator of acute myeloid leukemia-initiating cells
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- Contribution to journal › Article
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Mark
PRDM10 -rearranged Soft Tissue Tumor : A Clinicopathologic Study of 9 Cases
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- Contribution to journal › Article
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Mark
Multidimensional intratumour heterogeneity in neuroblastoma
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- Contribution to journal › Debate/Note/Editorial