Accès ouvert
2025
article
OpenAlex
Rafaela Horbach Marodin, Ecaterina Cozma, Sivan Reytan-Miron, Nigel J. O’Neil et autres
Cohesin maintains genome integrity through its ability to bind and link DNA molecules via a Structural Maintenance of Chromatin (SMC) activity. These effects are manifested through its major function in sister chromatid cohesion, but also through activities during DNA replication, repair, and …
ca, us
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2024
article
OpenAlex
Daphna Marom, Adi Mory, Sivan Reytan-Miron, Yam Amir et autres
(Abstracted from JAMA Network Open 2024;7(2):e240146 A large portion of mortality in neonatal intensive care units (NICUs) can be attributed to genetic disorders and/or birth defects; often, diagnosis of specific disorders can be difficult due to overlapping symptomology and insufficient sensitivity of …
Accès ouvert
2024
article
OpenAlex
Daphna Marom, Adi Mory, Sivan Reytan-Miron, Yam Amir et autres
Importance: National implementation of rapid trio genome sequencing (rtGS) in a clinical acute setting is essential to ensure advanced and equitable care for ill neonates. Objective: To evaluate the feasibility, diagnostic efficacy, and clinical utility of rtGS in neonatal intensive care units …
il
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