Search Results (39)
Click the Why column to see why an item matched the search.
| Match | Type | Why |
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| Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot. | Academic Article |
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| Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot. | Academic Article |
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| Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy. | Academic Article |
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| Rare Genetic Variants in Immune Genes and Neonatal Herpes Simplex Viral Infections. | Academic Article |
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| Rare SUZ12 variants commonly cause an overgrowth phenotype. | Academic Article |
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| Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients. | Academic Article |
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| Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics. | Academic Article |
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| Exome Analysis of Rare and Common Variants within the NOD Signaling Pathway. | Academic Article |
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| Integration of rare expression outlier-associated variants improves polygenic risk prediction. | Academic Article |
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| Rare and Common Variants in GALNT3 May Affect Bone Mass Independently of Phosphate Metabolism. | Academic Article |
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| Smail, Craig | Person |
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| Examination of rare genetic variants in dental enamel genes: The potential role of next-generation sequencing in primary dental care. | Academic Article |
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| Challenging diagnosis of congenital hyperinsulinism in two infants of diabetic mothers with rare pathogenic KCNJ11 and HNF4A gene variants. | Academic Article |
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| Exploring rare and low-frequency variants in the Saguenay-Lac-Saint-Jean population identified genes associated with asthma and allergy traits. | Academic Article |
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| Evaluating the Impact of Rare, Clinically Detected Germline Variants in MLL-AF4 Leukemia: A Bedside-to-Bench Translational Model of Infant ALL | Grant |
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