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- 2021
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Mark
Translating polygenic risk scores for clinical use by estimating the confidence bounds of risk prediction
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- Contribution to journal › Article
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Mark
A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients
(
- Contribution to journal › Article
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Mark
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes
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- Contribution to journal › Article
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Mark
The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant
(
- Contribution to journal › Article
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Mark
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture
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- Contribution to journal › Article
- 2020
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Mark
Recurrent Fusions Between YAP1 and KMT2A in Morphologically Distinct Neoplasms Within the Spectrum of Low-grade Fibromyxoid Sarcoma and Sclerosing Epithelioid Fibrosarcoma
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- Contribution to journal › Article
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Mark
Association of TIM-1 (T-Cell Immunoglobulin and Mucin Domain 1) With Incidence of Stroke
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- Contribution to journal › Article
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Mark
Copy number variants (CNVs) : a powerful tool for iPSC-based modelling of ASD
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- Contribution to journal › Scientific review
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Mark
The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 Decreases Secretion of IL-22BP Isoform-1, -2 and -3 and Is Associated with Risk for Multiple Sclerosis
(
- Contribution to journal › Article
- 2018
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Mark
A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes
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- Contribution to journal › Article