Zhikun Lu

9 Jinsui Rd
Guangzhou, 510623, China

Last Updated: 09/26/2026

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Found 14 publications

Identification of a Chinese patient with MTSS2-causing intellectual disability by WES reanalysis: a case report.

Identification of a Chinese patient with MTSS2-causing intellectual disability by WES reanalysis: a case report.

Journal: Frontiers in psychiatry

Published: October 09, 2025

Clinical characteristics, genetic spectrum and therapeutic effects of 51 male patients with idiopathic hypogonadotropic hypogonadism from southern China.

Clinical characteristics, genetic spectrum and therapeutic effects of 51 male patients with idiopathic hypogonadotropic hypogonadism from southern China.

Journal: Orphanet journal of rare diseases

Published: March 23, 2025

Clinical characteristics and prognosis of early diagnosed Wilson's disease: A large cohort study.

Clinical characteristics and prognosis of early diagnosed Wilson's disease: A large cohort study.

Journal: Liver international : official journal of the International Association for the Study of the Liver

Published: January 28, 2024

Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study.

Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study.

Journal: Orphanet journal of rare diseases

Published: January 11, 2024

The third case of Marbach-Rustad progeroid syndrome caused by a de novo LEMD2 variant.

The third case of Marbach-Rustad progeroid syndrome caused by a de novo LEMD2 variant.

Journal: Clinical genetics

Published: July 28, 2023

The first Chinese case of Siddiqi syndrome caused by a homozygous FITM2 variant.

The first Chinese case of Siddiqi syndrome caused by a homozygous FITM2 variant.

Journal: Clinical genetics

Published: May 25, 2022

Assessment of the diagnostic value of serum ceruloplasmin for Wilson's disease in children.

Assessment of the diagnostic value of serum ceruloplasmin for Wilson's disease in children.

Journal: BMC gastroenterology

Published: July 11, 2021

The EGFR-P38 MAPK axis up-regulates PD-L1 through miR-675-5p and down-regulates HLA-ABC via hexokinase-2 in hepatocellular carcinoma cells.

The EGFR-P38 MAPK axis up-regulates PD-L1 through miR-675-5p and down-regulates HLA-ABC via hexokinase-2 in hepatocellular carcinoma cells.

Journal: Cancer communications (London, England)

Published: May 06, 2020

Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature review.

Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature review.

Journal: BMC musculoskeletal disorders

Published: October 08, 2019

Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review.

Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review.

Journal: BMC pediatrics

Published: July 02, 2019

Clinical features and mutational analysis in 114 young children with Wilson disease from South China.

Clinical features and mutational analysis in 114 young children with Wilson disease from South China.

Journal: American journal of medical genetics. Part A

Published: February 04, 2019

A novel homozygous splice-site variant of NCAPD2 gene identified in two siblings with primary microcephaly: The second case report.

A novel homozygous splice-site variant of NCAPD2 gene identified in two siblings with primary microcephaly: The second case report.

Journal: Clinical genetics

Published: January 30, 2019

Showing 1-12 of 14

Last Updated: 09/26/2026