Xuechao B. Zhao

Methylation epigenetic analysis of a pedigree affected with Fragile X syndrome based on Nanopore long-read sequencing

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

Published: November 11, 2024

Current trends in blood biomarkers detection and neuroimaging for Parkinson's disease.

Journal: Ageing research reviews

Published: October 19, 2024

Application of triplet-primer PCR technology for the genetic testing and prenatal diagnosis of patients with Myotonic dystrophy type 1

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

Published: September 30, 2024

Unraveling the genetic mysteries of spinal muscular atrophy in Chinese families.

Journal: Orphanet journal of rare diseases

Published: July 20, 2024

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

Journal: Orphanet journal of rare diseases

Published: November 20, 2023

Analysis of a Chinese pedigree affected with Meckel syndrome due to variants of TMEM67 gene

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

Published: September 20, 2023

Genetic analysis of a pregnant woman with moderate intellectual disability due to variant of DLG4 gene

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

Published: February 28, 2023

Identification of novel variants in a Chinese patient with Chediak-Higashi syndrome

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

Published: November 01, 2022

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

Genetic testing and prenatal diagnosis for a Chinese pedigree affected with mitochondrial DNA depletion syndrome due to variant of MPV17 gene

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

Published: October 02, 2022

Methylation epigenetic analysis of a pedigree affected with Fragile X syndrome based on Nanopore long-read sequencing

Methylation epigenetic analysis of a pedigree affected with Fragile X syndrome based on Nanopore long-read sequencing

Current trends in blood biomarkers detection and neuroimaging for Parkinson's disease.

Current trends in blood biomarkers detection and neuroimaging for Parkinson's disease.

Application of triplet-primer PCR technology for the genetic testing and prenatal diagnosis of patients with Myotonic dystrophy type 1

Application of triplet-primer PCR technology for the genetic testing and prenatal diagnosis of patients with Myotonic dystrophy type 1

Unraveling the genetic mysteries of spinal muscular atrophy in Chinese families.

Unraveling the genetic mysteries of spinal muscular atrophy in Chinese families.

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

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

Analysis of a Chinese pedigree affected with Meckel syndrome due to variants of TMEM67 gene

Analysis of a Chinese pedigree affected with Meckel syndrome due to variants of TMEM67 gene

Genetic analysis of a pregnant woman with moderate intellectual disability due to variant of DLG4 gene

Genetic analysis of a pregnant woman with moderate intellectual disability due to variant of DLG4 gene

Identification of novel variants in a Chinese patient with Chediak-Higashi syndrome

Identification of novel variants in a Chinese patient with Chediak-Higashi syndrome

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

Genetic testing and prenatal diagnosis for a Chinese pedigree affected with mitochondrial DNA depletion syndrome due to variant of MPV17 gene

Genetic testing and prenatal diagnosis for a Chinese pedigree affected with mitochondrial DNA depletion syndrome due to variant of MPV17 gene

Genetic analysis of a case with Dubin-Johnson syndrome due to two novel variants of ABCC2 gene

Genetic analysis of a case with Dubin-Johnson syndrome due to two novel variants of ABCC2 gene

Genetic analysis of a child with glycogen storage disease type IXa due to a novel variant in PHKA2 gene

Genetic analysis of a child with glycogen storage disease type IXa due to a novel variant in PHKA2 gene