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    A novel TGFBR2 mutation causes Loeys-Dietz syndrome in a Chinese infant: A case report by Xin Liu, Kaiqing Liu, Lifu Hu, Zixiao Liu, Xinhua Liu, Jiantao Wang

    Published 2025-01-01
    “…Genetic analysis showed the patient carried a novel de novo TGF-β receptor 2 (TGFBR2) mutation (NM_003242: c.1005_1007delGTA (p.Glu335_Tyr336delinsAsp)). …”
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    A novel protein encoded by porcine circANKRD17 activates the PPAR pathway to regulate intramuscular fat metabolism by Xiao He, Fang Xie, Ying Nie, Xuefeng Wang, Junyi Luo, Ting Chen, Qianyun Xi, Yongliang Zhang, Jiajie Sun

    Published 2025-02-01
    “…In addition, we discovered that circANKRD17 has an open reading frame and can be translated into a novel 571-amino-acid protein that promotes lipid metabolism. …”
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    A Novel Variant Of Regenerating Iα Gene (REG) In Type II Diabetics Among Pakistani Targeted Population by Sadaf Saleem, Saeeda Baig, Sadia Farrukh, Mazhar Shafiq

    Published 2023-12-01
    “….+2199G>A, g.+2360A>G.  The novel SNP g.-145G>A was found in all patients (controls, T2DM). …”
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    A novel machine learning approach for spatiotemporal prediction of EMS events: A case study from Barranquilla, Colombia by Dionicio Neira-Rodado, Juan Camilo Paz-Roa, John Willmer Escobar, Miguel Ángel Ortiz-Barrios

    Published 2025-01-01
    “…Principal Component Analysis (PCA) enhances convergence and integrates diverse time series features. As a result, this novel integrated approach improves the estimation of spatiotemporal probabilities of emergency events, effectively addressing data sparsity challenges. …”
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    Targeted Next-Generation Resequencing of Gene Identifies Novel Multiple Variants Pattern in Severe Hereditary Factor V Deficiency by Piotr K. Janicki, Sonia Vaida, Hamid A. B. AL-Mondhiry

    Published 2013-01-01
    “…In addition, at least 75 additional single-nucleotide variants (including six novels) were identified in untranslated region of .…”
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    IL-32: A Novel Pluripotent Inflammatory Interleukin, towards Gastric Inflammation, Gastric Cancer, and Chronic Rhino Sinusitis by Muhammad Babar Khawar, Muddasir Hassan Abbasi, Nadeem Sheikh

    Published 2016-01-01
    “…A vast variety of nonstructural proteins have been studied for their key roles and involvement in a number of biological phenomenona. Interleukin-32 is a novel cytokine whose presence has been confirmed in most of the mammals except rodents. …”
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    A CADASIL-Like Case with a Novel Noncysteine Mutation of the NOTCH3 Gene and Granular Deposits in the Renal Arterioles by Kuniyuki Nakamura, Tetsuro Ago, Akihiro Tsuchimoto, Nozomi Noda, Asako Nakamura, Toshiharu Ninomiya, Takeshi Uchiumi, Kazuhiko Tsuruya, Masahiro Kamouchi, Hiroaki Ooboshi, Takanari Kitazono

    Published 2015-01-01
    “…He also suffered from slowly progressive renal failure with the findings of granular deposits similar to electron-dense granular osmiophilic material in the renal arterioles. We found a novel heterozygous missense mutation of the NOTCH3 gene, c.4039G>C in exon 24, resulting in a p.Gly1347Arg substitution in its extracellular domain. …”
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    The “Triangle” Sign: A Novel Ultrasound Marker for Diagnosing Total Choroidal Detachment and Total Suprachoroidal Hemorrhage by Bhatt VD, Bhatt DC, Bhatt KD, Dabir S, Berendschot TTJM, Erckens RJ, Webers CAB

    Published 2025-01-01
    “…Vaidehi D Bhatt,1 Deepak C Bhatt,1 Kalpana D Bhatt,1 Supriya Dabir,2 Tos TJM Berendschot,3 Roel J Erckens,3 Carroll AB Webers3 1UBM Institute, Mumbai, India; 2Department of Retina, Rajan Eye Care Pvt Ltd, Chennai, India; 3University Eye Clinic Maastricht, Maastricht, the NetherlandsCorrespondence: Vaidehi D Bhatt, UBM Institute, A/1 Ganesh Baug, Dadar, Mumbai, 400019, India, Tel +91-9821525810, Email vaidehibhatt94@gmail.comPurpose: This study aims to explore the diagnostic utility of ultrasound B-scan while introducing the “Triangle” sign as a novel indicator. It also validates the sign’s efficacy in distinguishing between choroidal detachment (CD) and suprachoroidal hemorrhage (SCH) from retinal detachment (RD) and vitreous hemorrhage (VH).Patients and Methods: Retrospective analysis of consecutive cases of total CD and SCH undergoing B-scan at a single tertiary imaging center. …”
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    A Novel Cuckoo Search Optimized Deep Auto-Encoder Network-Based Fault Diagnosis Method for Rolling Bearing by Jinyu Tong, Jin Luo, Haiyang Pan, Jinde Zheng, Qing Zhang

    Published 2020-01-01
    “…To enhance the performance of deep auto-encoder (AE) under complex working conditions, a novel deep auto-encoder network method for rolling bearing fault diagnosis is proposed in this paper. …”
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