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A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa
Published 2025-02-01“…Liang Chen,1,* Mei-Fang Zhao,2,* Hui-Wen Deng,1 Min Liao,1 Liang-Liang Fan,2 Qi-Bao Zhong,3 Jun Wang,1 Ke Li,1 Zheng-Hui Wu,4,* Jian-Yin Yin1 1Department of Anesthesiology, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, 410008, People’s Republic of China; 2Department of Cell Biology, School of Life Sciences, Central South University, Changsha, 410013, People’s Republic of China; 3Department of Facial Features, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, 410008, People’s Republic of China; 4Department of Child Rehabilitation, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, 410008, People’s Republic of China*These authors contributed equally to this workCorrespondence: Jian-Yin Yin, Department of Anesthesiology, Hunan Provincial Maternal and Child Health Care Hospital. …”
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Prevalence of Elevated Alanine Aminotransferase by Diagnostic Criterion, Age, and Gender among Adolescents
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Liver diseases: epidemiology, causes, trends and predictions
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Effect of retaining wall leakage on the deformation behavior of foundation pit in water-rich sandy strata
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Effect of Microwave Pretreatment on Grindability of Lead-Zinc Ore
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Luminescent Lanthanide Infinite Coordination Polymers for Ratiometric Sensing Applications
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Targeting Nrf2/KEAP1 signaling pathway using bioactive compounds to combat mastitis
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Effect of alloying elements on the stacking fault energies of dilute al-based alloys
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The Chinese Association for the Study of Pain (CASP): Expert Consensus on the Cervicogenic Headache
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Spatial metabolomics in mental disorders and traditional Chinese medicine: a review
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Intranasal Insulin Diminishes Postoperative Delirium and Elevated Osteocalcin and Brain Derived Neurotrophic Factor in Older Patients Undergoing Joint Replacement: A Randomized, Do...
Published 2025-02-01“…Mi Yang, Lei Zhou, Ge Long, Xing Liu, Wen Ouyang, Chang Xie, Xi He Department of Anesthesia, The Third Xiangya Hospital of Central South University, Changsha, People’s Republic of ChinaCorrespondence: Xi He, Email hexitougao@163.comBackground: Brain energy metabolism disorders, including glucose utilization disorders and abnormal insulin sensitivity, are linked to the pathogenesis of postoperative delirium. …”
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