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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...

詳細記述

保存先:
書誌詳細
出版年:Am J Med Genet A
主要な著者: Duvdevani, Morasha Plesser, Pettersson, Maria, Eisfeldt, Jesper, Avraham, Ortal, Dagan, Judith, Frumkin, Ayala, Lupski, James R., Lindstrand, Anna, Harel, Tamar
フォーマット: Artigo
言語:Inglês
出版事項: 2020
主題:
オンライン・アクセス: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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