Yi Lu

6PUBLICATIONS
19CO-AUTHORS
Paediatrics not elsewhere classifiedMedical biochemistry - inorganic elements and compoundsBioassaysNeurology and neuromuscular diseasesNeurogenetics
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Publications (6)

|Apr 14, 2025
COG6-CDG: Two Novel Variants and Milder Phenotype in a Chinese Patient.

Xue-Yuan Zhang, Jing Zhang, Yi Lu

|Apr 14, 2025
Splicing Analysis of MYO5B Noncanonical Variants in Patients with Low Gamma-Glutamyltransferase Cholestasis.

Li Wang, Yi-Ling Qiu, Kuerbanjiang Abuduxikuer

|May 14, 2022
Defining pathogenicity of NOTCH2 variants for diagnosis of Alagille syndrome type 2 using a large cohort of patients.

Zhong-Die Li, Kuerbanjiang Abuduxikuer, Li Wang

|Aug 20, 2020
NBAS disease: 14 new patients, a recurrent mutation, and genotype-phenotype correlation among 24 Chinese patients.

Zhong Die Li, Kuerbanjiang Abuduxikuer, Jing Zhang

|Mar 04, 2020
Low-GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization.

Jing Zhang, Ye Yang, Jing-Yu Gong

|Nov 08, 2019
TJP2 hepatobiliary disorders: Novel variants and clinical diversity.

Jing Zhang, Lang-Li Liu, Jing-Yu Gong

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Frequent Collaborators

5 joint publications

Jing Zhang

5 joint publications

Jian-She Wang

4 joint publications

Yi-Ling Qiu

4 joint publications

Zhong-Die Li