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- 2015
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Mark
Deep sequencing and SNP array analyses of pediatric T-cell acute lymphoblastic leukemia reveal NOTCH1 mutations in minor subclones and a high incidence of uniparental isodisomies affecting CDKN2A.
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- Contribution to journal › Article
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Mark
PON-P2: Prediction Method for Fast and Reliable Identification of Harmful Variants.
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- Contribution to journal › Article
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Mark
A novel atlas of gene expression in human skeletal muscle reveals molecular changes associated with aging.
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- Contribution to journal › Article
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Mark
Standard development at the Human Variome Project.
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- Contribution to journal › Article
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Mark
Characterization of genetic variation in TLR8 in relation to allergic rhinitis.
2015) In Allergy(
- Contribution to journal › Article
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Mark
Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness.
(
- Contribution to journal › Article
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Mark
Methylated RASSF1A in malignant peripheral nerve sheath tumors identifies neurofibromatosis type 1 patients with inferior prognosis.
(
- Contribution to journal › Article
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Mark
The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.
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- Contribution to journal › Article
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Mark
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
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- Contribution to journal › Article
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Mark
Variation in the PTH2R gene is associated with age-related degenerative changes in the lumbar spine.
(
- Contribution to journal › Article