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DNA copy number variations and craniofacial abnormalities in 1,457 children with neurodevelopmental disorders
Published 2025-01-01“…Regarding the pathogenicity of CNVs, 91 (57.96%, 91/157) were identified as pathogenic, 28 (17.83%, 28/157) as variants of uncertain clinical significance (VOUS), and 38 (24.20%, 38/157) as benign according to the American College of Medical Genetics and Genomics (ACMG).Using a specific sign-scoring scale, the proportion of pathogenic CNVs in children graded 1 point or higher (64%, 58/91) was significantly higher than that of non-pathogenic CNVs (43%, 29/66) (P < 0.05). …”
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Genome evolution following an ecological shift in nectar-dwelling Acinetobacter
Published 2025-01-01Get full text
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Molecular testing stratifies the risk of structural recurrence in high risk differentiated thyroid cancer: a retrospective cohort study
Published 2025-01-01“…BackgroundHigh-risk differentiated thyroid cancer in 2015 American Thyroid Association risk stratification system (ATA-RSS) exhibits a significantly increased probability of recurrence and poor outcomes. …”
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Clinical Characteristics in Patients with Triple Negative Breast Cancer
Published 2017-01-01“…BRCA1 and BRCA2 were significantly associated with TNBC (p<0.0001, p=0.0007). A prior history of breast cancer was significantly associated with TNBC (p=0.0003). …”
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Optogenetic control of horizontally acquired genes prevent stuck fermentations in yeast
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Diverse fox circovirus (Circovirus canine) variants circulate at high prevalence in grey wolves (Canis lupus) from the Northwest Territories, Canada
Published 2024-08-01“…Sequencing revealed high CanineCV genetic diversity, further exacerbated by recombination. …”
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Distribution of the arctic variant of the CPT1A gene in indigenous populations of Siberia
Published 2016-12-01Get full text
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Survival and risk factors for metastatic colorectal cancer patients with a history of prior malignancy
Published 2025-02-01“…Patients diagnosed with stage IV mCRC (per the American Joint Committee on Cancer [AJCC] 6th edition) between 2004 and 2015 were identified from the Surveillance, Epidemiology, and End Results (SEER) database. …”
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Connecting the Lines between Hypogonadism and Atherosclerosis
Published 2012-01-01Get full text
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The role of Beringia in human adaptation to Arctic conditions based on results of genomic studies of modern and ancient populations
Published 2023-07-01“…The adaptation of Amerindian ancestors to high latitudes and cold climates is supported by genomic data showing that adaptive genetic variants in Native Americans are associated with various metabolic pathways: melanin production processes in the skin, hair and eyes, the functioning of the cardiovascular system, energy metabolism and immune response characteristics. …”
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The domestication and the brain: forty years after
Published 2017-07-01“…This hypothesis was confirmed at the Institute of Cytology and Genetics, Novosibirsk, by unique long-lasting selection of silver foxes, Norway rats and American minks for nonaggressive behavior towards man. …”
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Microcephaly protein ANKLE2 promotes Zika virus replication
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Systematic identification of secondary bile acid production genes in global microbiome
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Ethanolamine-induced assembly of microcompartments is required for Fusobacterium nucleatum virulence
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