Jianbo Shu

6PUBLICATIONS
3CO-AUTHORS
NeurogeneticsNeurology and neuromuscular diseasesMedical biochemistry - amino acids and metabolitesGenetic immunologyGene expression (incl. microarray and other genome-wide approaches)
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Publications (6)

|Sep 23, 2026
Clinical and Genetic Analysis of Pediatric Neurodevelopmental Disorders With Complex Chromosomal Rearrangements in Two Cases.

|Jul 24, 2026
Expanding the Phenotypic and Functional Evidence for KCNK3 as a Neurodevelopmental Disorder Gene: A New Chinese Case and Drosophila Validation.

|Mar 28, 2024
Phosphoserine aminotransferase deficiency diagnosed by whole-exome sequencing and LC-MS/MS reanalysis: A case report and review of literature.

Jiaci Li, Xinping Wei, Yuchen Sun

|May 19, 2023
A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature review.

Yan Xue, Yiran Zhao, Bo Wu

|May 16, 2022
The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III.

Jing Wang, Yuping Yu, Chunquan Cai

|Sep 22, 2020
The spectrum of CYP21A2 gene mutations in patients with classic salt wasting form of 2l-hydroxylase deficiency in a Chinese cohort.

Yang Liu, Jie Zheng, Nan Liu

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Frequent Collaborators

3 joint publications

Chunquan Cai

1 joint publications

Yan Xue

1 joint publications

Jiaci Li