Xiangdong Kong-Zhang

Jianshe Rd, Erqi District
Zhengzhou, 450052, China

Last Updated: 09/26/2026

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Found 11 publications

Genetic analysis of a child with Dias-Logan syndrome due to variant of BCL11A gene

Genetic analysis of a child with Dias-Logan syndrome due to variant of BCL11A gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: September 01, 2024

Clinical characteristics and genetic analysis of two children with Tuberous sclerosis complex

Clinical characteristics and genetic analysis of two children with Tuberous sclerosis complex

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: November 23, 2023

Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients.

Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients.

Journal: Orphanet journal of rare diseases
Published: November 20, 2023

Genetic analysis of a patient with Papillorenal syndrome due to variant of PAX2 gene

Genetic analysis of a patient with Papillorenal syndrome due to variant of PAX2 gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: October 02, 2022

Clinical characteristics and genetic analysis of a Chinese pedigree affected with mitochondrial DNA depletion syndrome due to compound heterozygous variants of RRM2B gene

Clinical characteristics and genetic analysis of a Chinese pedigree affected with mitochondrial DNA depletion syndrome due to compound heterozygous variants of RRM2B gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: December 29, 2021

Genetic analysis and identification of novel variations in Chinese patients with pediatric epilepsy by whole-exome sequencing.

Genetic analysis and identification of novel variations in Chinese patients with pediatric epilepsy by whole-exome sequencing.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: December 08, 2021

Paternal uniparental disomy of chromosome 16 resulting in homozygosity of a GPT2 mutation causes intellectual and developmental disability.

Paternal uniparental disomy of chromosome 16 resulting in homozygosity of a GPT2 mutation causes intellectual and developmental disability.

Journal: European journal of medical genetics
Published: November 19, 2021

A de novo and novel nonsense variants in ASXL2 gene is associated with Shashi-Pena syndrome.

A de novo and novel nonsense variants in ASXL2 gene is associated with Shashi-Pena syndrome.

Journal: European journal of medical genetics
Published: October 27, 2021

Hermansky-Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6.

Hermansky-Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6.

Journal: European journal of medical genetics
Published: November 25, 2020

A novel NAPB splicing mutation identified by Trio-based exome sequencing is associated with early-onset epileptic encephalopathy.

A novel NAPB splicing mutation identified by Trio-based exome sequencing is associated with early-onset epileptic encephalopathy.

Journal: European journal of medical genetics
Published: July 28, 2020

Identification of two novel SMN1 point mutations associated with a very severe SMA-I phenotype.

Identification of two novel SMN1 point mutations associated with a very severe SMA-I phenotype.

Journal: European journal of medical genetics
Published: April 20, 2020
Showing 1-11 of 11

Last Updated: 09/26/2026