Kaihui H. Zhang

23976 Jingshi Road
Jinan, 250022, China

Last Updated: 09/26/2026

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Found 57 publications

Detection of pathogenic novel intronic splicing variants in the KIDINS220 gene causes motor developmental delay.

Detection of pathogenic novel intronic splicing variants in the KIDINS220 gene causes motor developmental delay.

Journal: Artificial cells, nanomedicine, and biotechnology

Published: January 12, 2026

Integrated multi-platform genetic profiling reveals dual molecular pathology in 46, XY disorders of sex development through NR5A1 Haploinsufficiency and maternal chromosome 15 UPD.

Integrated multi-platform genetic profiling reveals dual molecular pathology in 46, XY disorders of sex development through NR5A1 Haploinsufficiency and maternal chromosome 15 UPD.

Journal: Human molecular genetics

Published: November 10, 2025

Identification of a novel nonsense variant in ARR3 in a family with early-onset high myopia.

Identification of a novel nonsense variant in ARR3 in a family with early-onset high myopia.

Journal: Genes & genomics

Published: July 31, 2025

Near infrared fluorescence probe for dynamic and reversible monitoring of redox homeostasis fluctuations of hemangioma.

Near infrared fluorescence probe for dynamic and reversible monitoring of redox homeostasis fluctuations of hemangioma.

Journal: Talanta

Published: April 14, 2025

Low expression of MKRN1 promotes leukemia cell proliferation.

Low expression of MKRN1 promotes leukemia cell proliferation.

Journal: European journal of medical research

Published: April 10, 2025

Clinical characteristics and genetic mutation analysis in 18 pediatric patients with Shwachman-Diamond syndrome.

Clinical characteristics and genetic mutation analysis in 18 pediatric patients with Shwachman-Diamond syndrome.

Journal: Frontiers in genetics

Published: April 01, 2025

YAP-activated NAT10 promotes hepatoblastoma progression by activating the pentose phosphate pathway.

YAP-activated NAT10 promotes hepatoblastoma progression by activating the pentose phosphate pathway.

Journal: International journal of biological sciences

Published: December 28, 2024

Clinical and genetic characteristics of a case of Koolen-De Vries syndrome caused by KANSL1 gene mutation and literature review: A case report.

Clinical and genetic characteristics of a case of Koolen-De Vries syndrome caused by KANSL1 gene mutation and literature review: A case report.

Journal: Medicine

Published: December 10, 2024

Analysis of clinical characteristics and genetic variants in two pedigrees affected with Autosomal dominant intellectual developmental disorder 49

Analysis of clinical characteristics and genetic variants in two pedigrees affected with Autosomal dominant intellectual developmental disorder 49

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: November 11, 2024

A multicenter study on effect of delayed chemotherapy on prognosis of Burkitt lymphoma in children

A multicenter study on effect of delayed chemotherapy on prognosis of Burkitt lymphoma in children

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics

Published: September 27, 2024

Clinical and genetic features of Fanconi anemia associated with a variant of FANCA gene: Case report and literature review.

Clinical and genetic features of Fanconi anemia associated with a variant of FANCA gene: Case report and literature review.

Journal: Medicine

Published: September 10, 2024

Intron Variant Cause DICER1 Syndrome With Pleuropulmonary Blastoma.

Intron Variant Cause DICER1 Syndrome With Pleuropulmonary Blastoma.

Journal: Human mutation

Published: August 02, 2024

Showing 1-12 of 57

Last Updated: 09/26/2026