Jianbo Shu

No. 238 Longyan Road
Tianjin, 300134, China

Last Updated: 09/26/2026

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Found 23 publications

Dynamic changes in the corpus callosum in a case of HIVEP2-related disorder: a case report and literature review.

Dynamic changes in the corpus callosum in a case of HIVEP2-related disorder: a case report and literature review.

Journal: BMC pediatrics

Published: November 10, 2025

Intractable thrombocytopenia in a patient with atypical ataxia-telangiectasia: a case report.

Intractable thrombocytopenia in a patient with atypical ataxia-telangiectasia: a case report.

Journal: BMC medical genomics

Published: May 06, 2025

The utility of CNV analysis in identifying the molecular etiology of pediatric epilepsy patients.

The utility of CNV analysis in identifying the molecular etiology of pediatric epilepsy patients.

Journal: Pediatric research

Published: May 06, 2025

Pathogenic characterization and drug resistance of neonatal sepsis in China: a systematic review and meta-analysis.

Pathogenic characterization and drug resistance of neonatal sepsis in China: a systematic review and meta-analysis.

Journal: European journal of clinical microbiology & infectious diseases : official publication of the European Society of Clinical Microbiology

Published: December 31, 2024

First pathogenic non-coding variant in MMACHC: a functional deletion in the 5'-UTR associated with cobalamin C deficiency.

First pathogenic non-coding variant in MMACHC: a functional deletion in the 5'-UTR associated with cobalamin C deficiency.

Journal: Molecular biology reports

Published: November 11, 2024

Recent research on gene polymorphisms and genetic susceptibility of neonatal sepsis

Recent research on gene polymorphisms and genetic susceptibility of neonatal sepsis

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: August 16, 2024

Identification of the synonymous variant c.3141G > A in TNRC6B gene that altered RNA splicing by minigene assay.

Identification of the synonymous variant c.3141G > A in TNRC6B gene that altered RNA splicing by minigene assay.

Journal: Molecular biology reports

Published: May 13, 2024

Succinic semialdehyde dehydrogenase deficiency: exploring the relationship between ALDH5A1 variants and molecular effect on SSADH.

Succinic semialdehyde dehydrogenase deficiency: exploring the relationship between ALDH5A1 variants and molecular effect on SSADH.

Journal: Orphanet journal of rare diseases

Published: January 29, 2024

Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with cutis laxa.

Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with cutis laxa.

Journal: Molecular biology reports

Published: January 29, 2024

Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study.

Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study.

Journal: BMC pediatrics

Published: November 12, 2023

Multi-dimensional Insight into the Coexistence of Pathogenic Genes for ADAR1 and TSC2: Careful Consideration is Essential for Interpretation of ADAR1 Variants.

Multi-dimensional Insight into the Coexistence of Pathogenic Genes for ADAR1 and TSC2: Careful Consideration is Essential for Interpretation of ADAR1 Variants.

Journal: Biochemical genetics

Published: April 27, 2023

Vitamin D metabolic pathway genes polymorphisms and vitamin D levels in association with neonatal hyperbilirubinemia in China: a single-center retrospective cohort study.

Vitamin D metabolic pathway genes polymorphisms and vitamin D levels in association with neonatal hyperbilirubinemia in China: a single-center retrospective cohort study.

Journal: BMC pediatrics

Published: February 28, 2023

Showing 1-12 of 23

Last Updated: 09/26/2026