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TJP2 hepatobiliary disorders: Novel variants and clinical diversity

Human mutation, 2020-02, Vol.41 (2), p.502-511

2020

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NR1H4 disease: rapidly progressing neonatal intrahepatic cholestasis and early death

Orphanet journal of rare diseases, 2024-04, Vol.19 (1), p.171-171, Article 171

2024

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ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression

Liver international, 2020-11, Vol.40 (11), p.2788-2796

2020

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Association of novel TMEM67 variants with mild phenotypes of high gamma‐glutamyl transpeptidase cholestasis and congenital hepatic fibrosis

Journal of cellular physiology, 2022-06, Vol.237 (6), p.2713-2723

2022

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Defining pathogenicity of NOTCH2 variants for diagnosis of Alagille syndrome type 2 using a large cohort of patients

Liver international, 2022-08, Vol.42 (8), p.1836-1848

2022

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Splicing Analysis of MYO5B Noncanonical Variants in Patients with Low Gamma-Glutamyltransferase Cholestasis

Human mutation, 2023-07, Vol.2023, p.1-12

2023

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Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis

Journal of medical genetics, 2021-08, Vol.58 (8), p.514-525

2021

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NBAS disease: 14 new patients, a recurrent mutation, and genotype–phenotype correlation among 24 Chinese patients

Hepatology research, 2020-11, Vol.50 (11), p.1306-1315

2020

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Poly-hydroxylated bile acids and their prognostic roles in Alagille syndrome

World journal of pediatrics : WJP, 2023-07, Vol.19 (7), p.652-662

2023

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Novel Melanocortin 2 Receptor Variant in a Chinese Infant With Familial Glucocorticoid Deficiency Type 1, Case Report and Review of Literature

Frontiers in endocrinology (Lausanne), 2019-06, Vol.10, p.359

2019

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Early onset and liver failure indicating poor prognosis of infant liver failure syndrome type 1

Orphanet journal of rare diseases, 2024-06, Vol.19 (1), p.225-13

2024

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Comprehensive Bile Acid Profiling of ABCB4-mutated Patients and the Prognostic Role of Taurine-conjugated 3α,6α,7α,12α-Tetrahydroxylated Bile Acid in Cholestasis

Journal of clinical and translational hepatology, 2024-02, Vol.12 (2), p.151-161

2024

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Recurrent AKR1D1 c.580-13T>A Variant

The Journal of molecular diagnostics : JMD, 2023-04, Vol.25 (4), p.227-233

2023

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Recurrent AKR1D1 c.580-13T>A Variant: A Cause of Δ4-3-Oxosteroid-5β-Reductase Deficiency

The Journal of molecular diagnostics : JMD, 2023-04, Vol.25 (4), p.227-233

2023

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Recurrent AKR1D1 c.580-13T>A Variant: A Cause of Δ 4 -3-Oxosteroid-5β-Reductase Deficiency

The Journal of molecular diagnostics : JMD, 2023-04, Vol.25 (4), p.227

2023

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Designing Impedance Networks Converters

1st ed. 2018 edition., 2017

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Novel Melanocortin 2 Receptor Variant in a Chinese Infant With Familial Glucocorticoid Deficiency Type 1, Case Report and Review of Literature

Frontiers in endocrinology, 2019, Vol.10, p.359-359

2019

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Preliminary study on monitoring the time weighted average permissible concentration of dust in the air by quartz crystal microbalances

Zhonghua laodong weisheng zhiyebing zazhi, 2004-06, Vol.22 (3), p.227

2004

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Effect of pollen source on reproductive success of Impatiens oxyanthera under warming conditions

Zhi wu sheng tai xue bao = Acta phytoecologica Sinica, 2022, Vol.46 (4), p.416-427

2022

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Environmental Functional Nanomaterials

1st edition., 2019

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China's e-Science Blue Book 2020

1st ed. 2021., 2021

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China's e-Science Blue Book 2018

1st ed. 2020., 2019

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High Performance Computing: 8th CCF Conference, HPC 2012, Zhangjiajie, China, October 29-31, 2012. Revised Selected Papers

1, 2013

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Brain Informatics: International Conference, BI 2009, Beijing, China, October 22-24, Proceedings

2009 edition., 2009

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儿童反复发热相关急性肝衰竭的诊治

临床肝胆病杂志, 2022, Vol.38 (2), p.264-267

2022

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TJP2 hepatobiliary disorders: Novel variants and clinical diversity

NR1H4 disease: rapidly progressing neonatal intrahepatic cholestasis and early death

ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression

Association of novel TMEM67 variants with mild phenotypes of high gamma‐glutamyl transpeptidase cholestasis and congenital hepatic fibrosis

Defining pathogenicity of NOTCH2 variants for diagnosis of Alagille syndrome type 2 using a large cohort of patients

Splicing Analysis of MYO5B Noncanonical Variants in Patients with Low Gamma-Glutamyltransferase Cholestasis

Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis

NBAS disease: 14 new patients, a recurrent mutation, and genotype–phenotype correlation among 24 Chinese patients

Poly-hydroxylated bile acids and their prognostic roles in Alagille syndrome

Novel Melanocortin 2 Receptor Variant in a Chinese Infant With Familial Glucocorticoid Deficiency Type 1, Case Report and Review of Literature

Early onset and liver failure indicating poor prognosis of infant liver failure syndrome type 1

Comprehensive Bile Acid Profiling of ABCB4-mutated Patients and the Prognostic Role of Taurine-conjugated 3α,6α,7α,12α-Tetrahydroxylated Bile Acid in Cholestasis

Recurrent AKR1D1 c.580-13T>A Variant

Recurrent AKR1D1 c.580-13T>A Variant: A Cause of Δ4-3-Oxosteroid-5β-Reductase Deficiency

Recurrent AKR1D1 c.580-13T>A Variant: A Cause of Δ 4 -3-Oxosteroid-5β-Reductase Deficiency

Designing Impedance Networks Converters

Novel Melanocortin 2 Receptor Variant in a Chinese Infant With Familial Glucocorticoid Deficiency Type 1, Case Report and Review of Literature

Preliminary study on monitoring the time weighted average permissible concentration of dust in the air by quartz crystal microbalances

Effect of pollen source on reproductive success of Impatiens oxyanthera under warming conditions

Environmental Functional Nanomaterials

China's e-Science Blue Book 2020

China's e-Science Blue Book 2018

High Performance Computing: 8th CCF Conference, HPC 2012, Zhangjiajie, China, October 29-31, 2012. Revised Selected Papers

Brain Informatics: International Conference, BI 2009, Beijing, China, October 22-24, Proceedings

儿童反复发热相关急性肝衰竭的诊治

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