Search Results - "Luo, Yalin"
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Novel mutations in ZP2 and ZP3 cause female infertility in three patients
Published in Journal of assisted reproduction and genetics (01-05-2022)“…Purpose The aim of this study was to identify the disease-causing mutations found in three infertile female patients who were diagnosed with abnormal zona…”
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A novel mutation in ZP3 causes empty follicle syndrome and abnormal zona pellucida formation
Published in Journal of assisted reproduction and genetics (01-01-2021)“…Purpose To identify disease-causing genes involved in female infertility. Methods Whole-exome sequencing and Sanger DNA sequencing were used to identify the…”
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Study on the Dispersion of Radionuclides under Different Hydrological Conditions of Spent Fuel Shipping in Daya Bay
Published in Science and technology of nuclear installations (10-06-2022)“…The radionuclide dispersion in coastal water is mainly controlled by the water flow and tidal effect. Tracing and analysis of radioactive pollutant dispersion…”
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PT-Informer: A Deep Learning Framework for Nuclear Steam Turbine Fault Diagnosis and Prediction
Published in Machines (Basel) (01-08-2023)“…The health status of equipment is of paramount importance during the operation of nuclear power plants. The occurrence of faults not only leads to significant…”
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A Novel Principal Component Analysis-Informer Model for Fault Prediction of Nuclear Valves
Published in Machines (Basel) (01-04-2022)“…In this paper, a deep learning fault detection and prediction framework combining principal component analysis (PCA) and Informer is proposed to solve the…”
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Double-composite rectangular truss bridge and its joint analysis
Published in Journal of Traffic and Transportation Engineering (English ed. Online) (01-08-2015)“…This paper describes a novel composite tubular truss bridge with concrete slab and concrete-filled rectangular chords. With concrete slab plus truss system and…”
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Government audit supervision, financialization, and executives' excess perks: Evidence from Chinese state-owned enterprises
Published in International review of financial analysis (01-10-2023)“…In recent years, the phenomenon of corporate financialization has become increasingly prevalent in China. This paper uses data from Chinese state-owned listed…”
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A novel mutation in the GALC gene causes Krabbe disease accompanied with extensive Mongolian spots in a consanguineous family
Published in Neurological sciences (01-07-2023)Get full text
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COVID-19 pandemic, limited attention, and analyst forecast dispersion
Published in Finance research letters (01-12-2022)“…•This paper investigates the effect of the COVID-19 pandemic on analysts’ forecast dispersion. We find that analysts’ exposure to the COVID-19 lockdown reduces…”
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GBF1 deficiency causes cataracts in human and mouse
Published in Human genetics (01-11-2024)“…Any opacification of the lens can be defined as cataracts, and lens epithelium cells play a crucial role in guaranteeing lens transparency by maintaining its…”
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Patients with Asian-type DEL can safely be transfused with RhD-positive blood
Published in Blood (27-04-2023)“…•Patients with Asian-type DEL may safely receive D+ red cell transfusion.•Full-length RHD transcripts were identified in Asian-type DEL erythroblasts and…”
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Inverse model investigation of radionuclide dispersion in a ventilated room based on the adjoint probability method
Published in Annals of nuclear energy (01-05-2022)“…•An inverse model of radionuclide dispersion under ventilation conditions was established based on the adjoint probability method coupled with CFD.•More…”
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TUBB8 Mutations Cause Female Infertility with Large Polar Body Oocyte and Fertilization Failure
Published in Reproductive sciences (Thousand Oaks, Calif.) (01-10-2021)“…Tubulin beta 8 class VIII (TUBB8) is a special β-tubulin isotype that mainly expressed in primate oocytes and early embryos and identified as the…”
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A novel microdeletion upstream of HOXD13 in a Chinese family with synpolydactyly
Published in American journal of medical genetics. Part A (01-01-2022)“…Synpolydactyly (SPD) is a digital malformation with the typical clinical phenotype of the webbing of 3/4 fingers and/or 4/5 toes, and combined with…”
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A novel homozygous mutation in ACTL7A leads to male infertility
Published in Molecular genetics and genomics : MGG (01-03-2023)“…Male infertility, a global public health problem, exhibits complex pathogenic causes and genetic factors deserve further discovery and study. We identified a…”
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Patients with Asian-type DEL can safely be transfused using RhD-positive blood
Published in Blood (13-01-2023)“…Red blood cells (RBCs) of the Asian-type DEL phenotype express few RhD proteins and are typed as serologic RhD-negative (D-) in routine testing. RhD-positive…”
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Developing Students' Abilities in Engineering Design through the Teaching of Mechanism and Machine Theory
Published in International journal of mechanical engineering education (01-10-2013)“…The development of students' abilities has attracted a lot of attention in engineering higher education. Reform of the curriculum is necessary. Based on an…”
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A novel mutation in the GALC gene causes Krabbe disease accompanied with extensive Mongolian spots in a consanguineous family
Published in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (01-07-2023)Get full text
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Photochemistry of Aryl Vinyl Sulfides and Aryl Vinyl Ethers: Evidence for the Formation of Thiocarbonyl and Carbonyl Ylides
Published in Journal of organic chemistry (06-09-1996)“…Aryl vinyl thioethers 5a and 9a and aryl vinyl ethers 5b and 9b form ylide intermediates following laser irradiation at 308 nm. In benzene, the ylides possess…”
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