Search Results (49)
Click the Why column to see why an item matched the search.
| Match | Type | Why |
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| A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. | Academic Article |
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| A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. | Academic Article |
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| A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. | Academic Article |
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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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| PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. | Academic Article |
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| Pangenome graphs improve the analysis of structural variants in rare genetic diseases. | 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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| 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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| 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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