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The germline carrier of the BRCA1 pathogenic mutation has been well proven to confer an increased risk of breast and ovarian cancer. Despite BRCA1 biallelic pathogenic mutations being extremely rare, they have been reported to be embryonically lethal or to cause Fanconi anemia (FA). Here we describe a patient who was a 48-year-old female identified with biallelic pathogenic mutations of the BRCA1 gene, with no or very subtle FA-features. She was diagnosed with ovarian cancer and breast cancer at the ages of 43 and 44 and had a strong family history of breast and gynecological cancers.  相似文献   
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Jori  Popat K.  Jadhav  Vrushali H. 《Catalysis Letters》2022,152(6):1703-1710
Catalysis Letters - A new zirconium based carbonaceous solid acid catalyst Zr@CC-PA with both Lewis and Bronsted acidic sites was prepared by simultaneous carbonization and phosphonation of glucose...  相似文献   
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Qin  Yi  Tao  Xianping  Huang  Yu    Jian 《World Wide Web》2019,22(1):1-37
World Wide Web - Rule mechanism has been widely used in many areas, such as databases, artificial intelligent and pervasive computing. In a rule mechanism, rule activation decides which rules are...  相似文献   
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One specific class of non-linear evolution equations, known as the Tzitzéica-type equations, has received great attention from a group of researchers involved in non-linear science. In this article, new exact solutions of the Tzitzéica-type equations arising in non-linear optics, including the Tzitzéica, Dodd–Bullough–Mikhailov and Tzitzéica–Dodd–Bullough equations, are obtained using the expa function method. The integration technique actually suggests a useful and reliable method to extract new exact solutions of a wide range of non-linear evolution equations.  相似文献   
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Clean Technologies and Environmental Policy - Food production and consumption is one of the major causes of global environmental degradation. One way to address environmental impacts in the food...  相似文献   
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The objective of this study was to determine the effect of temperature on whole milk density measured at four different temperatures: 5, 10, 15, and 20 °C. A total of ninety-three individual milk samples were collected from morning milking of thirty-two Holstein Friesian dairy cows, of national average genetic merit, once every two weeks over a period of 4 weeks and were assessed by Fourier transform infrared spectroscopy for milk composition analysis. Density of the milk was evaluated using two different analytical methods: a portable density meter DMA35 and a standard desktop model DMA4500M (Anton Paar GmbH, UK). Milk density was analysed with a linear mixed model with the fixed effects of sampling period, temperature and analysis method; triple interaction of sampling period x analysis method x temperature; and the random effect of cow to account for repeated measures. The effect of temperature on milk density (ρ) was also evaluated including temperature (t) as covariate with linear and quadratic effects within each analytic method. The regression equation describing the curvature and density–temperature relationship for the DMA35 instrument was ρ = 1.0338−0.00017T−0.0000122T2 (R2 = 0.64), while it was ρ = 1.0334 + 0.000057T−0.00001T2 (R2 = 0.61) for DMA4500 instrument. The mean density determined with DMA4500 at 5 °C was 1.0334 g cm−3, with corresponding figures of 1.0330, 1.0320 and 1.0305 g cm−3 at 10, 15 and 20 °C, respectively. The milk density values obtained in this study at specific temperatures will help to address any bias in weight–volume calculations and thus may also improve the financial and operational control for the dairy processors in Ireland and internationally.  相似文献   
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