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4021
A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia
Published 2024-12-01“…Whole-exome sequencing identified a novel splice-site variant, NM_001655.5: c.1241 + 1G > A, in the ARCN1 gene. …”
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Novel NOTCH3 mutation c.1564 T > A (p.Cys522Ser) presenting with early-onset Parkinsonism and white matter lesions
Published 2025-01-01“…This report presents a novel NOTCH3 c.1564 T > A (p.Cys522Ser) mutation associated with early-onset parkinsonism and significant white matter lesions. …”
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A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family
Published 2023-01-01“…In addition to the previously reported clinical phenotype, an upper lip cleft was found in one of the affected members as a novel phenotype that is not reported by previous studies in EDSS1 patients. …”
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A Novel Tool for High-Throughput Screening of Granulocyte-Specific Antibodies Using the Automated Flow Cytometric Granulocyte Immunofluorescence Test (Flow-GIFT)
Published 2011-01-01“…The flow cytometric granulocyte immunofluorescence test (Flow-GIFT) has been introduced for routine use when investigating patients and healthy blood donors. Here we describe a novel tool in the automation of the Flow-GIFT that enables a rapid screening of blood donations. …”
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Development and Validation of LAMP Assays for Distinguishing MPXV Clades with Fluorescent and Colorimetric Readouts
Published 2025-01-01Subjects: Get full text
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miR-24-3p/FGFR3 Signaling as a Novel Axis Is Involved in Epithelial-Mesenchymal Transition and Regulates Lung Adenocarcinoma Progression
Published 2018-01-01“…Taken together, these findings define a novel insight into the miR-24-3p/FGFR3 signaling axis in regulating lung adenocarcinoma progression and suggest that targeting the miR-24-3p/FGFR3 axis could be an effective and efficient way to prevent tumor progression.…”
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A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities
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A novel interpretable deep learning model for diagnosis in emergency department dyspnoea patients based on complete data from an entire health care system.
Published 2024-01-01“…<h4>Interpretation</h4>We designed a novel interpretable deep learning model for diagnosis in emergency department dyspnoea patients by analysing unselected data from a complete regional health care system.…”
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Antitumor immunostimulatory effect via cell-killing action of a novel extracorporeal blood circulating photodynamic therapy system using 5-aminolevulinic acid
Published 2025-01-01“…Abstract This study investigated whether intravenous administration of tumor cells killed by photodynamic therapy (PDT) with 5-aminolevulinic acid (5-ALA) had antitumor effects on distal tumors. Furthermore, a novel extracorporeal blood circulating 5-ALA/PDT system was developed. 5-ALA/PDT- (low or high irradiation) or anticancer drug–treated cells were intravenously administered to rats in a glioma cancer model. …”
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