Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants

Congenital heart disease (CHD) is the most common birth defect and brings with it significant mortality and morbidity. The application of exome and genome sequencing has greatly improved the rate of genetic diagnosis for CHD but the cause in the majority of cases remains uncertain. It is clear that...

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محفوظ في:
التفاصيل البيبلوغرافية
الحاوية / القاعدة:Hum Mol Genet
المؤلفون الرئيسيون: Chapman, Gavin, Moreau, Julie L M, I P, Eddie, Szot, Justin O, Iyer, Kavitha R, Shi, Hongjun, Yam, Michelle X, O’Reilly, Victoria C, Enriquez, Annabelle, Greasby, Joelene A, Alankarage, Dimuthu, Martin, Ella M M A, Hanna, Bernadette C, Edwards, Matthew, Monger, Steven, Blue, Gillian M, Winlaw, David S, Ritchie, Helen E, Grieve, Stuart M, Giannoulatou, Eleni, Sparrow, Duncan B, Dunwoodie, Sally L
التنسيق: Artigo
اللغة:Inglês
منشور في: Oxford University Press 2020
الموضوعات:
General Article
الوصول للمادة أونلاين:https://ncbi.nlm.nih.gov/pmc/articles/PMC7068028/
https://ncbi.nlm.nih.gov/pubmed/31813956
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz270
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