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digitalcommons.uri.edu | ||
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digitalcommons.wustl.edu
BACKGROUNDS: While many studies agree that consanguinity increases the rate of congenital heart disease (CHD), few genome analyses have been conducted with consanguineous CHD cohorts. METHODS: We recruited 73 CHD probands from consanguineous families in Turkey and used whole-exome sequencing (WES) to identify genetic lesions in these patients. RESULTS: On average, each patient had 6.95 rare damaging homozygous variants, 0.68 of which are loss-of-function (LoF) variants. Seven patients (9.6%) carried damaging homozygous variants in five causal CHD genes. Six of those patients exhibited laterality defects (six HTX and one D-TGA). Three additional patients (4.1%) harbored other types of CHD-associated genomic alterations, which overall explained 13.7% (10/73) o... |
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ecollections.law.fiu.edu
By Dr. Matthew Eric Bassett, Published on 01/01/20 |
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crossworks.holycross.edu
An ethnographic consideration of the devotion surrounding Audrey Marie Santo, a stigmatist and victim soul in Worcester, Massachusetts. The article uses the theme of the "silent body" to connect the Audrey Santo phenomenon to contemporary academic understandings of the body and embodiment. |
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18f.gsa.gov
18F builds effective, user-centric digital services focused on the interaction between government and the people and businesses it serves. |
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