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Whole genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome
Clinical laboratory diagnostic evaluation of the genomes of children with suspected genetic disorders, including chromosomal microarray and exome sequencing, cannot detect copy number neutral genomic rearrangements such as inversions, balanced translocations and complex chromosomal rearrangements (C...
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| Publicat a: | Am J Med Genet A |
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| Autors principals: | , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7502196/ https://ncbi.nlm.nih.gov/pubmed/32125084 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61539 |
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