P671: Enhancing genetic diagnostics: The critical role of enzyme activity assays and RNA-sequencing as primary multi-omics screening tools
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| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2025-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774425010799 |
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| _version_ | 1850178231808819200 |
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| author | Mandy Radefeldt Erick Alberto Rivera Comparan Christian Beetz Tobias Boettcher Sabrina Lemke Catarina Pereira Sebastian Oppermann Claudia Mrosowski Susan Zielske Peter Bauer |
| author_facet | Mandy Radefeldt Erick Alberto Rivera Comparan Christian Beetz Tobias Boettcher Sabrina Lemke Catarina Pereira Sebastian Oppermann Claudia Mrosowski Susan Zielske Peter Bauer |
| author_sort | Mandy Radefeldt |
| collection | DOAJ |
| format | Article |
| id | doaj-art-134b767ccd894723901ee25f5bb0df4d |
| institution | OA Journals |
| issn | 2949-7744 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj-art-134b767ccd894723901ee25f5bb0df4d2025-08-20T02:18:47ZengElsevierGenetics in Medicine Open2949-77442025-01-01310304010.1016/j.gimo.2025.103040P671: Enhancing genetic diagnostics: The critical role of enzyme activity assays and RNA-sequencing as primary multi-omics screening toolsMandy Radefeldt0Erick Alberto Rivera Comparan1Christian Beetz2Tobias Boettcher3Sabrina Lemke4Catarina Pereira5Sebastian Oppermann6Claudia Mrosowski7Susan Zielske8Peter Bauer9Centogene GmbH, Rostock, GermanyHospital de Pediatria, CMNSXXI, Mexico City, MexicoCentogene GmbH, Rostock, GermanyCentogene GmbH, Rostock and Germany and Medical Faculty, University of Greifswald, Greifswald, GermanyCentogene GmbH, Rostock, GermanyCentogene GmbH, Rostock, GermanyCentogene GmbH, Rostock, GermanyCentogene GmbH, Rostock, GermanyCentogene GmbH, Rostock, GermanyCentogene GmbH, Rostock, Germany and Medical Faculty, University of Rostock, Rostock, Germanyhttp://www.sciencedirect.com/science/article/pii/S2949774425010799 |
| spellingShingle | Mandy Radefeldt Erick Alberto Rivera Comparan Christian Beetz Tobias Boettcher Sabrina Lemke Catarina Pereira Sebastian Oppermann Claudia Mrosowski Susan Zielske Peter Bauer P671: Enhancing genetic diagnostics: The critical role of enzyme activity assays and RNA-sequencing as primary multi-omics screening tools Genetics in Medicine Open |
| title | P671: Enhancing genetic diagnostics: The critical role of enzyme activity assays and RNA-sequencing as primary multi-omics screening tools |
| title_full | P671: Enhancing genetic diagnostics: The critical role of enzyme activity assays and RNA-sequencing as primary multi-omics screening tools |
| title_fullStr | P671: Enhancing genetic diagnostics: The critical role of enzyme activity assays and RNA-sequencing as primary multi-omics screening tools |
| title_full_unstemmed | P671: Enhancing genetic diagnostics: The critical role of enzyme activity assays and RNA-sequencing as primary multi-omics screening tools |
| title_short | P671: Enhancing genetic diagnostics: The critical role of enzyme activity assays and RNA-sequencing as primary multi-omics screening tools |
| title_sort | p671 enhancing genetic diagnostics the critical role of enzyme activity assays and rna sequencing as primary multi omics screening tools |
| url | http://www.sciencedirect.com/science/article/pii/S2949774425010799 |
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