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Analysis of PAH gene variants and prenatal diagnosis for 43 Chinese pedigrees affected with Phenylketonuria

Zhonghua yi xue yi chuan xue za zhi, 2024-06, Vol.41 (6), p.702

2024

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A novel variant of the SOX10 gene associated with Waardenburg syndrome type IV

BMC medical genomics, 2023-06, Vol.16 (1), p.147-147, Article 147

2023

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Effect of clinical whole exome sequencing in aetiological investigation and reproductive risk prediction for a couple with monogenic inherited diseases

Frontiers in genetics, 2024-05, Vol.15, p.1364769

2024

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Prenatal diagnosis of fetuses with ultrasound anomalies by whole-exome sequencing in Luoyang city, China

Frontiers in genetics, 2024-01, Vol.14, p.1301439-1301439

2024

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Cat eye syndrome caused by 22q11.1q11.21 duplication: case report in a Chinese family

Molecular cytogenetics, 2023-10, Vol.16 (1), p.1-28, Article 28

2023

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Association of Clinical and Immunological Characteristics With Disease Severity and Outcomes in 211 Patients With COVID-19 in Wuhan, China

Frontiers in cellular and infection microbiology, 2021-05, Vol.11, p.667487-667487

2021

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An unusual case of trisomy 8 mosaicism complicated by coexistence of phenylketonuria

Clinica chimica acta, 2024-03, Vol.555, p.117794, Article 117794

2024

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Overexpression of HvHGGT Enhances Tocotrienol Levels and Antioxidant Activity in Barley

Journal of agricultural and food chemistry, 2017-06, Vol.65 (25), p.5181-5187

2017

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Application of Copy Number Variation Sequencing Technology in 422 Foetuses with Abnormal Ultrasound Soft Markers

International journal of women's health, 2023-11, Vol.15, p.1791-1800

2023

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Over‐expression of (1,3;1,4)‐β‐D‐glucanase isoenzyme EII gene results in decreased (1,3;1,4)‐β‐D‐glucan content and increased starch level in barley grains

Journal of the science of food and agriculture, 2017-01, Vol.97 (1), p.122-127

2017

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Over-expression of (1,3;1,4)-[beta]-D-glucanase isoenzyme EII gene results in decreased (1,3;1,4)-[beta]-D-glucan content and increased starch level in barley grains

Journal of the science of food and agriculture, 2017-01, Vol.97 (1), p.122

2017

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An unusual case of trisomy 8 mosaicism complicated by coexistence of phenylketonuria

Clinica chimica acta; international journal of clinical chemistry, 2024, Vol.555, p.117794-117794

2024

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Investigation of microstructure and wear resistance of laser-clad CoCrNiTi and CrFeNiTi medium-entropy alloy coatings on Ti sheet

Optics and laser technology, 2022-01, Vol.145, p.107518, Article 107518

2022

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Microstructure, Texture, and Hardness Evolution of Cold-Rolled High-Purity Ti Sheet During Annealing at 350 °C to 550 °C

Metallurgical and materials transactions. A, Physical metallurgy and materials science, 2022-06, Vol.53 (6), p.2086-2098

2022

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First‐principles study on the effect of arsenic impurity on oxidation of pyrite surfaces

International journal of quantum chemistry, 2024-01, Vol.124 (1), p.n/a

2024

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Inflammatory Endotype-Associated Airway Resistome in Chronic Obstructive Pulmonary Disease

Microbiology spectrum, 2022-04, Vol.10 (2), p.e0259321-e0259321

2022

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Effects of various cold plasma atmospheres and external influencing factors on the adsorption of formaldehyde gas by bamboo-based carbon microfibers

Industrial crops and products, 2024-09, Vol.215, p.118607, Article 118607

2024

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Laser-clad Nb(Ta)TiZr medium-entropy alloy coatings on pure Zr sheet: Microstructural characteristics, hardness and wear resistance

Intermetallics, 2022-04, Vol.143, p.107498, Article 107498

2022

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Effects of pulsed laser surface remelting on microstructure, hardness and lead-bismuth corrosion behavior of a ferrite/martensitic steel

Nuclear Engineering and Technology, 2022, 54(6), , pp.1972-1981

2022

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Laser-clad Al-Ti-Zr and Cr-Ti-Zr coatings on Zr alloy: composition-induced microstructural and hardness differences

International journal of refractory metals & hard materials, 2022-12, Vol.109, p.105956, Article 105956

2022

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Effects of β-cooling rates on microstructural characteristics and hardness variation of a dual-phase Zr alloy

International journal of refractory metals & hard materials, 2021-11, Vol.100, p.105619, Article 105619

2021

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Deactivation characteristics of Ce-modified Cu-based carbon materials for catalytic wet air oxidation of phenol wastewater

Journal of environmental chemical engineering, 2022-10, Vol.10 (5), p.108228, Article 108228

2022

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Quantitative study of microstructural, textural and hardness evolution of high-purity Ti sheet during rolling from low to medium strains

Materials today communications, 2021-12, Vol.29, p.102989, Article 102989

2021

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Effects of pulsed laser surface remelting on microstructure, hardness and lead-bismuth corrosion behavior of a ferrite/martensitic steel

Nuclear engineering and technology, 2022, Vol.54 (6), p.1972-1981

2022

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A clinical study on PA-MSHA vaccine used for adjuvant therapy of lymphoma and lung cancer

Hua xi yi ke da xue xue bao = Journal of West China University of Medical Sciences = Huaxi yike daxue xuebao, 2000-09, Vol.31 (3), p.334

2000

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Analysis of PAH gene variants and prenatal diagnosis for 43 Chinese pedigrees affected with Phenylketonuria

A novel variant of the SOX10 gene associated with Waardenburg syndrome type IV

Effect of clinical whole exome sequencing in aetiological investigation and reproductive risk prediction for a couple with monogenic inherited diseases

Prenatal diagnosis of fetuses with ultrasound anomalies by whole-exome sequencing in Luoyang city, China

Cat eye syndrome caused by 22q11.1q11.21 duplication: case report in a Chinese family

Association of Clinical and Immunological Characteristics With Disease Severity and Outcomes in 211 Patients With COVID-19 in Wuhan, China

An unusual case of trisomy 8 mosaicism complicated by coexistence of phenylketonuria

Overexpression of HvHGGT Enhances Tocotrienol Levels and Antioxidant Activity in Barley

Application of Copy Number Variation Sequencing Technology in 422 Foetuses with Abnormal Ultrasound Soft Markers

Over‐expression of (1,3;1,4)‐β‐D‐glucanase isoenzyme EII gene results in decreased (1,3;1,4)‐β‐D‐glucan content and increased starch level in barley grains

Over-expression of (1,3;1,4)-[beta]-D-glucanase isoenzyme EII gene results in decreased (1,3;1,4)-[beta]-D-glucan content and increased starch level in barley grains

An unusual case of trisomy 8 mosaicism complicated by coexistence of phenylketonuria

Investigation of microstructure and wear resistance of laser-clad CoCrNiTi and CrFeNiTi medium-entropy alloy coatings on Ti sheet

Microstructure, Texture, and Hardness Evolution of Cold-Rolled High-Purity Ti Sheet During Annealing at 350 °C to 550 °C

First‐principles study on the effect of arsenic impurity on oxidation of pyrite surfaces

Inflammatory Endotype-Associated Airway Resistome in Chronic Obstructive Pulmonary Disease

Effects of various cold plasma atmospheres and external influencing factors on the adsorption of formaldehyde gas by bamboo-based carbon microfibers

Laser-clad Nb(Ta)TiZr medium-entropy alloy coatings on pure Zr sheet: Microstructural characteristics, hardness and wear resistance

Effects of pulsed laser surface remelting on microstructure, hardness and lead-bismuth corrosion behavior of a ferrite/martensitic steel

Laser-clad Al-Ti-Zr and Cr-Ti-Zr coatings on Zr alloy: composition-induced microstructural and hardness differences

Effects of β-cooling rates on microstructural characteristics and hardness variation of a dual-phase Zr alloy

Deactivation characteristics of Ce-modified Cu-based carbon materials for catalytic wet air oxidation of phenol wastewater

Quantitative study of microstructural, textural and hardness evolution of high-purity Ti sheet during rolling from low to medium strains

Effects of pulsed laser surface remelting on microstructure, hardness and lead-bismuth corrosion behavior of a ferrite/martensitic steel

A clinical study on PA-MSHA vaccine used for adjuvant therapy of lymphoma and lung cancer

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