Search Results (243)
Click the Why column to see why an item matched the search.
| Match | Type | Why |
|---|
| DNA Mutational Analysis | Concept |
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| DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype? | Academic Article |
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| Lodato, Michael | Person |
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| Applications of fluorescence for detecting rare sequence rearrangements in vivo. | Academic Article |
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| Diagnostic dilemmas resulting from the immunoreactive trypsinogen/DNA cystic fibrosis newborn screening algorithm. | Academic Article |
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| Genomic structure and mutational analysis of the human KIF1Balpha gene located at 1p36.2 in neuroblastoma. | Academic Article |
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| Identifying cis-acting DNA elements within a control region. | Academic Article |
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| Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections. | Academic Article |
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| Sequence specificity of streptozotocin-induced mutations. | Academic Article |
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| Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss. | Academic Article |
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| Wide spetcrum mutational analysis of metastatic renal cell cancer: a retrospective next generation sequencing approach. | Academic Article |
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| MSPrecise: A molecular diagnostic test for multiple sclerosis using next generation sequencing. | Academic Article |
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| Comeau, Anne Marie | Person |
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| A case of late-onset Segawa syndrome (autosomal dominant dopa-responsive dystonia) with a novel mutation of the GTP-cyclohydrase I (GCH1) gene. | Academic Article |
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| Activity-dependent transcription and disorders of human cognition. | Academic Article |
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