Jianbo Shu
No.238, Longyan Road
Guoyuan Xincun, 300134, China
Guoyuan Xincun, 300134, China
Last Updated: 09/26/2026
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Found 69 publications
Expanding the Phenotypic and Functional Evidence for KCNK3 as a Neurodevelopmental Disorder Gene: A New Chinese Case and Drosophila Validation.
Journal: Clinical genetics
Published: May 20, 2026
Coexistence of 21-hydroxylase deficiency and Gitelman syndrome in a neonate presenting with severe hyponatremic seizures: a case report.
Journal: Frontiers in endocrinology
Published: March 28, 2026
Integrated multi-omics analysis reveals the involvement of the gut-brain axis in children with autism.
Journal: Frontiers in microbiology
Published: December 13, 2025
Experimental insights into MMACHC variants using a novel minigene system.
Journal: Molecular genetics and metabolism
Published: September 12, 2025
Association of IRX6 rs6499755 and HAAO rs3816183 Polymorphisms With Hypospadias Susceptibility in Northern Chinese Han Population.
Journal: Genetics research
Published: September 27, 2024
CTSG polymorphisms in Chinese children with type 1 diabetes mellitus.
Journal: Journal of tropical pediatrics
Published: August 09, 2024
RNA sequencing combined with whole-exome sequencing revealed familial homocystinemia due to MTHFR deficiency and its complex splicing events.
Journal: Gene
Published: June 28, 2024
Refining the genetic diagnostic puzzle: A case report on a Chinese ARPKD patient with a reciprocal balanced translocation and c.2507 T > C (p.V836A) in PKHD1.
Journal: Nephrology (Carlton, Vic.)
Published: April 15, 2024
Delayed Diagnosis of Spinal Muscular Atrophy in Two Chinese Families due to Novel SMN1 Deletions.
Journal: American journal of medical genetics. Part A
Published: March 23, 2024
Novel Variants of CEP152 in a Case of Compound-Heterozygous Inheritance of Epilepsy.
Journal: Global medical genetics
Published: January 17, 2024
Last Updated: 09/26/2026