Works by Qiu, Wenjuan

Results: 63

Dissolved inorganic carbon input significantly lowers carbon dioxide flux but not methane flux in shallow macrophyte-dominated systems with positive effects on carbon stocks.

Published in:

BMC Plant Biology, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12870-025-06651-2

By:

Diao, Fei;
Anwaier, Ailifeire;
Qiu, Wenjuan;
Qian, Tian;
Guan, Baohua;
Su, Yaling;
Li, Kuanyi

Publication type:

Article

D‐mannitol‐based eutectic composite phase change materials with high thermal conductivity and solar‐thermal conversion.

Published in:

International Journal of Energy Research, 2022, v. 46, n. 11, p. 15722, doi. 10.1002/er.8271

By:

Bai, Yu;
Qiu, Wenjuan;
Wang, Shuangfeng

Publication type:

Article

Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut‐type methylmalonic acidemia: A retrospective study.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1822

By:

Yu, Yue;
Shuai, Ruixue;
Liang, Lili;
Qiu, Wenjuan;
Shen, Linghua;
Wu, Shengnan;
Wei, Haiyan;
Chen, Yongxing;
Yang, Chiju;
Xu, Peng;
Chen, Xigui;
Zou, Hui;
Feng, Jizhen;
Niu, Tingting;
Hu, Haili;
Ye, Jun;
Zhang, Huiwen;
Lu, Deyun;
Gong, Zhuwen;
Zhan, Xia

Publication type:

Article

Uniparental isodisomy caused autosomal recessive diseases: NGS‐based analysis allows the concurrent detection of homogenous variants and copy‐neutral loss of heterozygosity.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 10, p. N.PAG, doi. 10.1002/mgg3.945

By:

Xiao, Bing;
Wang, Lili;
Liu, Huili;
Fan, Yanjie;
Xu, Yan;
Sun, Yu;
Qiu, Wenjuan

Publication type:

Article

RT‐PCR analysis of mRNA revealed the splice‐altering effect of rare intronic variants in monogenic disorders.

Published in:

Annals of Human Genetics, 2020, v. 84, n. 6, p. 456, doi. 10.1111/ahg.12400

By:

Zhang, Xia;
Qiu, Wenjuan;
Liu, Huili;
Ye, Xiantao;
Sun, Yu;
Fan, Yanjie;
Yu, Yongguo

Publication type:

Article

Application of liquid chromatography-tandem mass spectrometry in the diagnosis and follow-up of maple syrup urine disease in a Chinese population.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2013, v. 26, n. 5/6, p. 433, doi. 10.1515/jpem-2012-0343

By:

Lin, Na;
Ye, Jun;
Qiu, Wenjuan;
Han, Lianshu;
Zhang, Huiwen;
Gu, Xuefan

Publication type:

Article

Investigation of GALNS variants and genotype–phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 593, doi. 10.1002/jimd.12491

By:

Yi, Mengni;
Wang, Yu;
Gao, Xiaolan;
Han, Lianshu;
Qiu, Wenjuan;
Gu, Xuefan;
Maegawa, Gustavo H. B.;
Zhang, Huiwen

Publication type:

Article

Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 435, doi. 10.1007/s10545-010-9217-0

By:

Wang, Fei;
Han, Lianshu;
Yang, Yanling;
Gu, Xuefan;
Ye, Jun;
Qiu, Wenjuan;
Zhang, Huiwen;
Zhang, Yafen;
Gao, XiaoLan;
Wang, Yu

Publication type:

Article

Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study.

Published in:

Human Mutation, 2022, v. 43, n. 5, p. 568, doi. 10.1002/humu.24347

By:

Sun, Yu;
Peng, Jing;
Liang, Desheng;
Ye, Xiantao;
Xu, Na;
Chen, Linlin;
Yan, Dan;
Zhang, Huiwen;
Xiao, Bing;
Qiu, Wenjuan;
Shen, Yiping;
Pang, Nan;
Liu, Yingdi;
Liang, Chen;
Qin, Zailong;
Luo, Jingsi;
Chen, Fei;
Wang, Jingmin;
Zhang, Zhixin;
Wei, Haiyan

Publication type:

Article

Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China.

Published in:

Human Mutation, 2022, v. 43, n. 5, p. 557, doi. 10.1002/humu.24345

By:

Luo, Xiaomei;
Duan, Ying;
Fang, Di;
Sun, Yu;
Xiao, Bing;
Zhang, Huiwen;
Han, Lianshu;
Liang, Lili;
Gong, Zhuwen;
Gu, Xuefan;
Yu, Yongguo;
Qiu, Wenjuan

Publication type:

Article

Clinical, biochemical, and genotype‐phenotype correlations of 118 patients with Niemann‐Pick disease Types A/B.

Published in:

Human Mutation, 2021, v. 42, n. 5, p. 614, doi. 10.1002/humu.24192

By:

Hu, Jiayue;
Maegawa, Gustavo H.B.;
Zhan, Xia;
Gao, Xiaolan;
Wang, Yu;
Xu, Feng;
Qiu, Wenjuan;
Han, Lianshu;
Gu, Xuefan;
Zhang, Huiwen

Publication type:

Article

Enhanced genome editing to ameliorate a genetic metabolic liver disease through co-delivery of adeno-associated virus receptor.

Published in:

SCIENCE CHINA Life Sciences, 2022, v. 65, n. 4, p. 718, doi. 10.1007/s11427-020-1744-6

By:

Yin, Shuming;
Ma, Lie;
Shao, Tingting;
Zhang, Mei;
Guan, Yuting;
Wang, Liren;
Hu, Yaqiang;
Chen, Xi;
Han, Honghui;
Shen, Nan;
Qiu, Wenjuan;
Geng, Hongquan;
Yu, Yongguo;
Li, Shichang;
Yu, Weishi;
Liu, Mingyao;
Li, Dali

Publication type:

Article

The Impact of Growth Hormone Treatment on COVID-19 Susceptibility and Severity in Children with Short Stature: A Survey Study with Mendelian Randomization Analysis.

Published in:

Infection & Drug Resistance, 2024, v. 17, p. 5675, doi. 10.2147/IDR.S483477

By:

Qiu, Wenjuan;
Wang, Ruifang;
Liang, Lili;
Sun, Yuning;
Zhou, Rong;
Wang, Xiaoli;
Sun, Wen;
Gu, Xuefan

Publication type:

Article

Rapid detection of glycogen storage disease type Ia by DNA microarray.

Published in:

Clinical Chemistry & Laboratory Medicine, 2010, v. 48, n. 9, p. 1229, doi. 10.1515/CCLM.2010.244

By:

Shanshan Xu;
Shengying Qin;
Xuefan Gu;
Wenjuan Qiu;
Jun Ye;
Lianshu Han;
Lin He

Publication type:

Article

Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03070-8

By:

Du, Taozi;
Xia, Yu;
Sun, Chengkai;
Gong, Zhuwen;
Liang, Lili;
Gong, Zizhen;
Wang, Ruifang;
Lu, Deyun;
Zhang, Kaichuang;
Yang, Yi;
Sun, Yuning;
Sun, Manqing;
Sun, Yu;
Xiao, Bing;
Qiu, Wenjuan

Publication type:

Article

Late-onset cblC defect: clinical, biochemical and molecular analysis.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02890-4

By:

Ding, Si;
Ling, Shiying;
Liang, Lili;
Qiu, Wenjuan;
Zhang, Huiwen;
Chen, Ting;
Zhan, Xia;
Xu, Feng;
Gu, Xuefan;
Han, Lianshu

Publication type:

Article

Long-Read Sequencing Solves Complex Structure of CYP21A2 in a Large 21-Hydroxylase Deficiency Cohort.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, n. 2, p. 406, doi. 10.1210/clinem/dgae519

By:

Wang, Ruifang;
Luo, Xiaomei;
Sun, Yu;
Liang, Lili;
Mao, Aiping;
Lu, Deyun;
Zhang, Kaichuang;
Yang, Yi;
Sun, Yuning;
Sun, Manqing;
Han, Lianshu;
Zhang, Huiwen;
Gu, Xuefan;
Qiu, Wenjuan;
Yu, Yongguo

Publication type:

Article

Examining the blood amino acid status in pretherapeutic patients with hyperphenylalaninemia.

Published in:

2020

By:

Liang, Lili;
Ye, Jun;
Han, Lianshu;
Qiu, Wenjuan;
Zhang, Huiwen;
Yu, Yongguo;
Zhu, Tianwen;
Xu, Feng;
Zhan, Xia;
Bao, Peizhong;
Ji, Wenjun;
Gu, Xuefan

Publication type:

journal article

Spectrum Analysis of Common Inherited Metabolic Diseases in Chinese Patients Screened and Diagnosed by Tandem Mass Spectrometry.

Published in:

Journal of Clinical Laboratory Analysis, 2015, v. 29, n. 2, p. 162, doi. 10.1002/jcla.21745

By:

Han, Lianshu;
Han, Feng;
Ye, Jun;
Qiu, Wenjuan;
Zhang, Huiwen;
Gao, Xiaolan;
Wang, Yu;
Ji, Wenjun;
Gu, Xuefan

Publication type:

Article

Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study.

Published in:

Cellular Physiology & Biochemistry (Karger AG), 2018, v. 49, n. 1, p. 295, doi. 10.1159/000492879

By:

Huang, Zhuo;
Sun, Yu;
Fan, Yanjie;
Wang, Lili;
Liu, Huili;
Gong, Zhuwen;
Wang, Jianguo;
Yan, Hui;
Wang, Yu;
Hu, Guorui;
Wang, Ruifang;
Ye, Jun;
Han, Lianshu;
Qiu, Wenjuan;
Zhang, Huiwen;
Liang, Lili;
Yang, Yu;
Dauber, Andrew;
Yu, Yongguo;
Gu, Xue-Fan

Publication type:

Article

A Multi-Centre Prospective Study of the Efficacy and Safety of Alglucosidase Alfa in Chinese Patients With Infantile-Onset Pompe Disease.

Published in:

Frontiers in Pharmacology, 2022, v. 13, p. 1, doi. 10.3389/fphar.2022.903488

By:

Zhu, Diqi;
Zhu, Jiacong;
Qiu, Wenjuan;
Wang, Benzhen;
Liu, Lin;
Yu, Xiaodan;
Ou, Zhenheng;
Shan, Guangsong;
Wang, Jian;
Li, Bin;
Chen, Xiaokang;
Liu, Cong;
Li, Zipu;
Fu, Lijun

Publication type:

Article

Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 01, doi. 10.3389/fgene.2022.1062715

By:

Siyu Chang;
Yi Yang;
Feng Xu;
Wenjun Ji;
Xia Zhan;
Xiaolan Gao;
Ting Chen;
Wenjuan Qiu;
Huiwen Zhang;
Lili Liang;
Deyun Lu;
Kaichuang Zhang;
Xuefan Gu;
Lianshu Han

Publication type:

Article

Correction to: Increasing targeting scope of adenosine base editors in mouse and rat embryos through fusion of TadA deaminase with Cas9 variants.

Published in:

2019

By:

Yang, Lei;
Zhang, Xiaohui;
Wang, Liren;
Yin, Shuming;
Zhu, Biyun;
Xie, Ling;
Duan, Qiuhui;
Hu, Huiqiong;
Zheng, Rui;
Wei, Yu;
Peng, Liangyue;
Han, Honghui;
Zhang, Jiqin;
Qiu, Wenjuan;
Geng, Hongquan;
Siwko, Stefan;
Zhang, Xueli;
Liu, Mingyao;
Li, Dali

Publication type:

Correction Notice

Correction to: Increasing targeting scope of adenosine base editors in mouse and rat embryos through fusion of TadA deaminase with Cas9 variants.

Published in:

Protein & Cell, 2019, p. 1, doi. 10.1007/s13238-019-0631-2

By:

Yang, Lei;
Zhang, Xiaohui;
Wang, Liren;
Yin, Shuming;
Zhu, Biyun;
Xie, Ling;
Duan, Qiuhui;
Hu, Huiqiong;
Zheng, Rui;
Wei, Yu;
Peng, Liangyue;
Han, Honghui;
Zhang, Jiqin;
Qiu, Wenjuan;
Geng, Hongquan;
Siwko, Stefan;
Zhang, Xueli;
Liu, Mingyao;
Li, Dali

Publication type:

Article

Increasing targeting scope of adenosine base editors in mouse and rat embryos through fusion of TadA deaminase with Cas9 variants.

Published in:

Protein & Cell, 2018, v. 9, n. 9, p. 814, doi. 10.1007/s13238-018-0568-x

By:

Yang, Lei;
Zhang, Xiaohui;
Wang, Liren;
Yin, Shuming;
Zhu, Biyun;
Xie, Ling;
Duan, Qiuhui;
Hu, Huiqiong;
Zheng, Rui;
Wei, Yu;
Peng, Liangyue;
Han, Honghui;
Zhang, Jiqin;
Qiu, Wenjuan;
Geng, Hongquan;
Siwko, Stefan;
Zhang, Xueli;
Liu, Mingyao;
Li, Dali

Publication type:

Article

Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China.

Published in:

Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00646-0

By:

Ling, Shiying;
Wu, Shengnan;
Shuai, Ruixue;
Yu, Yue;
Qiu, Wenjuan;
Wei, Haiyan;
Yang, Chiju;
Xu, Peng;
Zou, Hui;
Feng, Jizhen;
Niu, Tingting;
Hu, Haili;
Zhang, Huiwen;
Liang, Lili;
Wang, Yu;
Chen, Ting;
Xu, Feng;
Gu, Xuefan;
Han, Lianshu

Publication type:

Article

Genetic Variants and Clinical Features of Patients With Glycogen Storage Disease Type Ib.

Published in:

JAMA Network Open, 2025, v. 8, n. 2, p. e2461888, doi. 10.1001/jamanetworkopen.2024.61888

By:

Xia, Yu;
Sun, Yu;
Du, Taozi;
Sun, Chengkai;
Xu, Ying;
Ge, Wensong;
Liang, Lili;
Wang, Ruifang;
Sun, Manqing;
Xiao, Bing;
Qiu, Wenjuan

Publication type:

Article

Assessment of the Diagnostic Value of Plasma Levels, Activities, and Their Ratios of von Willebrand Factor and ADAMTS13 in Patients with Cerebral Infarction.

Published in:

Clinical & Applied Thrombosis/Hemostasis, 2016, v. 22, n. 3, p. 252, doi. 10.1177/1076029615583347

By:

Qu, Le;
Jiang, Miao;
Qiu, Wenjuan;
Lu, Shiqi;
Zhao, Yunxiao;
Xia, Lijun;
Ruan, Changgeng;
Zhao, Yiming

Publication type:

Article

Propanediol Cyclic Sulfate as An Electrolyte Additive to Improve the Cyclic Performance of LiNi0.6Co0.1Mn0.3O2/Graphite Pouch‐Cell at High Voltage.

Published in:

ChemElectroChem, 2023, v. 10, n. 3, p. 1, doi. 10.1002/celc.202201039

By:

Liu, Shuang;
Qiu, Wenjuan;
Su, Zhuoying;
Li, Jia;
Xiao, Xin;
Nan, Junmin;
Zuo, Xiaoxi

Publication type:

Article

Clinical utility of regions of homozygosity (ROH) identified in exome sequencing: when to pursue confirmatory uniparental disomy testing for imprinting disorders?

Published in:

Clinical Chemistry & Laboratory Medicine, 2025, v. 63, n. 1, p. 87, doi. 10.1515/cclm-2024-0239

By:

Huo, Xiaoyan;
Lu, Xinyi;
Lu, Deyun;
Liu, Huili;
Liu, Yi;
Zhao, Qianfeng;
Sun, Yu;
Dai, Weiqian;
Qiu, Wenjuan;
Yu, Yongguo;
Fan, Yanjie

Publication type:

Article

Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type.

Published in:

2021

By:

Chen, Ting;
Liang, Lili;
Zhang, Huiwen;
Ye, Jun;
Qiu, Wenjuan;
Xiao, Bing;
Zhu, Hong;
Wang, Lei;
Xu, Feng;
Gong, Zhuwen;
Gu, Xuefan;
Han, Lianshu

Publication type:

journal article

A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients.

Published in:

2021

By:

Liang, Lili;
Shuai, Ruixue;
Yu, Yue;
Qiu, Wenjuan;
Shen, Linghua;
Wu, Shengnan;
Wei, Haiyan;
Chen, Yongxing;
Yang, Chiju;
Xu, Peng;
Chen, Xigui;
Zou, Hui;
Feng, Jizhen;
Niu, Tingting;
Hu, Haili;
Ye, Jun;
Zhang, Huiwen;
Lu, Deyun;
Gong, Zhuwen;
Zhan, Xia

Publication type:

journal article

Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency.

Published in:

2020

By:

Lu, Deyun;
Han, Feng;
Qiu, Wenjuan;
Zhang, Huiwen;
Ye, Jun;
Liang, Lili;
Wang, Yu;
Ji, Wenjun;
Zhan, Xia;
Gu, Xuefan;
Han, Lianshu

Publication type:

journal article

Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies.

Published in:

2020

By:

Dai, Mengyao;
Xiao, Bing;
Zhang, Huiwen;
Ye, Jun;
Qiu, Wenjuan;
Zhu, Hong;
Wang, Lei;
Liang, Lili;
Zhan, Xia;
Ji, Wenjun;
Wang, Yu;
Yu, Yongguo;
Gu, Xuefan;
Han, Lianshu

Publication type:

journal article

A Novel Mutation in Melanocortin Receptor 2 and a Reported Mutation in Melanocortin Receptor 2 Accessory Protein: Three Chinese Cases with Familial Glucocorticoid Deficiency.

Published in:

Molecular Syndromology, 2023, v. 14, n. 1, p. 71, doi. 10.1159/000526320

By:

Duan, Ying;
Xia, Yu;
Gong, Zhuwen;
Liu, Huili;
Liang, Lili;
Zhang, Kaichuang;
Yang, Yi;
Wang, Ruifang;
Xiao, Bing;
Qiu, Wenjuan

Publication type:

Article

Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study.

Published in:

Clinical Genetics, 2023, v. 103, n. 6, p. 655, doi. 10.1111/cge.14329

By:

Zhong, Lin;
Gao, Xiaolan;
Wang, Yu;
Qiu, Wenjuan;
Han, Lianshu;
Gu, Xuefan;
Zhang, Huiwen

Publication type:

Article

Fetal genetically determined birth weight plays a causal role in earlier puberty timing: evidence from human genetic studies.

Published in:

Human Reproduction, 2024, v. 39, n. 4, p. 792, doi. 10.1093/humrep/deae019

By:

Peng, Qinghui;
Qiu, Wenjuan;
Li, Zengjun;
Zhao, Jian;
Zhu, Cairong

Publication type:

Article

Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development.

Published in:

Scientific Reports, 2017, p. 44536, doi. 10.1038/srep44536

By:

Fan, Yanjie;
Zhang, Xia;
Wang, Lili;
Wang, Ruifang;
Huang, Zhuo;
Sun, Yu;
Yao, Ruen;
Huang, Xiaodong;
Ye, Jun;
Han, Lianshu;
Qiu, Wenjuan;
Zhang, Huiwen;
Liang, Lili;
Gu, Xuefan;
Yu, Yongguo

Publication type:

Article

Clinical, Biochemical, and Molecular Analyses of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients.

Published in:

Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.577046

By:

Gong, Zhuwen;
Liang, Lili;
Qiu, Wenjuan;
Zhang, Huiwen;
Ye, Jun;
Wang, Yu;
Ji, Wenjun;
Chen, Ting;
Gu, Xuefan;
Han, Lianshu

Publication type:

Article

Prenatal Diagnosis of Glutaric Acidemia I Based on Amniotic Fluid Samples in 42 Families Using Genetic and Biochemical Approaches.

Published in:

Frontiers in Genetics, 2020, p. 1, doi. 10.3389/fgene.2020.00496

By:

Xiao, Bing;
Qiu, Wenjuan;
Ye, Jun;
Zhang, Huiwen;
Zhu, Hong;
Wang, Lei;
Liang, Lili;
Xu, Feng;
Chen, Ting;
Xu, Yan;
Yu, Yongguo;
Gu, Xuefan;
Han, Lianshu

Publication type:

Article

Analysis of the IDS Gene in 38 Patients with Hunter Syndrome: The c.879G>A (p.Gln293Gln) Synonymous Variation in a Female Create Exonic Splicing.

Published in:

PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0022951

By:

Huiwen Zhang;
Jing Li;
Xinshun Zhang;
Yu Wang;
Wenjuan Qiu;
Jun Ye;
Lianshu Han;
Xiaolan Gao;
Xuefan Gu

Publication type:

Article

Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02737-y

By:

Zheng, Wanqi;
Duan, Ying;
Xia, Yu;
Liang, Lili;
Gong, Zhuwen;
Wang, Ruifang;
Lu, Deyun;
Zhang, Kaichuang;
Yang, Yi;
Sun, Yuning;
Zhang, Huiwen;
Han, Lianshu;
Gong, Zizhen;
Xiao, Bing;
Qiu, Wenjuan

Publication type:

Article

Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02656-y

By:

Ling, Shiying;
Qiu, Wenjuan;
Zhang, Huiwen;
Liang, Lili;
Lu, Deyun;
Chen, Ting;
Zhan, Xia;
Wang, Yu;
Gu, Xuefan;
Han, Lianshu

Publication type:

Article

Genetic analysis and clinical assessment of four patients with Glycogen Storage Disease Type IIIa in China.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12881-018-0560-6

By:

Zhang, Yu;
Xu, Mingming;
Chen, Xiaoxia;
Yan, Aijuan;
Zhang, Guoyong;
Liu, Zhenguo;
Qiu, Wenjuan

Publication type:

Article

Noninvasive prenatal diagnosis of cobalamin C (cblC) deficiency through target region sequencing of cell-free DNA in maternal plasma.

Published in:

2020

By:

Han, Lianshu;
Chen, Chao;
Guo, Fengyu;
Ye, Jun;
Peng, Zhiyu;
Qiu, Wenjuan;
Wang, Yaoshen;
Li, Wei;
Zhang, Huiwen;
Liang, Lili;
Wang, Yu;
Wang, Huanhuan;
Ji, Xing;
Sun, Jun;
Gu, Xuefan

Publication type:

journal article

Prenatal diagnosis of methylmalonic aciduria from amniotic fluid using genetic and biochemical approaches.

Published in:

2019

By:

Ji, Xing;
Wang, Huanhuan;
Ye, Jun;
Qiu, Wenjuan;
Zhang, Huiwen;
Liang, Lili;
Xiao, Bing;
Dai, Mengyao;
Xu, Yan;
Chen, Ting;
Xu, Feng;
Chen, Yingwei;
Ye, Weiping;
Gu, Xuefan;
Wang, Lei;
Han, Lianshu

Publication type:

journal article

Prenatal Diagnosis of Isovaleric Acidemia From Amniotic Fluid Using Genetic and Biochemical Approaches.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.898860

By:

Ding, Si;
Liang, Lili;
Qiu, Wenjuan;
Zhang, Huiwen;
Xiao, Bing;
Dong, Liping;
Ji, Wenjun;
Xu, Feng;
Gong, Zhuwen;
Gu, Xuefan;
Wang, Lei;
Han, Lianshu

Publication type:

Article

The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.805599

By:

Ling, Shiying;
Wu, Shengnan;
Shuai, Ruixue;
Yu, Yue;
Qiu, Wenjuan;
Wei, Haiyan;
Yang, Chiju;
Xu, Peng;
Zou, Hui;
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