Junke Xia

Analysis of PAH gene variants and prenatal diagnosis for 43 Chinese pedigrees affected with Phenylketonuria

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

Published: May 31, 2024

Analysis of a child with Microvillus inclusion disease due to variants of MYO5B gene and a literature review

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

Published: March 06, 2024

Genetic analysis of a rare case with Disorder of sex development due to structural rearrangement of Y chromosome

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

Published: October 31, 2023

Application of low-depth whole genome sequencing for copy number variation analysis in children with disorders of sex development

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

Published: January 29, 2023

Molecular study and genotype-phenotype in Chinese female patients with 46, XY disorders of sex development.

Journal: Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology

Published: August 02, 2021

Two females presenting primary amenorrhea diagnosed with Kallmann syndrome caused by novel FGFR1 variants.

Journal: The journal of obstetrics and gynaecology research

Published: April 09, 2021

Genetic analysis of a case with ectodermal dysplasia using whole exome sequencing

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

Published: November 12, 2020

Novel mutations of the CYP17A1 gene in four Chinese 46,XX cases with partial 17a-hydroxylase/17,20-lyase deficiency.

Journal: Steroids

Published: August 25, 2020

A Chinese child with hyperpigmentation diagnosed with familial glucocorticoid deficiency type 1 using whole-exome sequencing.

Journal: Pediatrics and neonatology

Published: August 10, 2020

Clinical and Genetic Characteristics of 17 α-Hydroxylase/17, 20-Lyase Deficiency: c.985_987delTACinsAA Mutation of CYP17A1 Prevalent in the Chinese Han Population.

Journal: Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists

Published: July 16, 2020

Analysis of PAH gene variants and prenatal diagnosis for 43 Chinese pedigrees affected with Phenylketonuria

Analysis of PAH gene variants and prenatal diagnosis for 43 Chinese pedigrees affected with Phenylketonuria

Analysis of a child with Microvillus inclusion disease due to variants of MYO5B gene and a literature review

Analysis of a child with Microvillus inclusion disease due to variants of MYO5B gene and a literature review

Genetic analysis of a rare case with Disorder of sex development due to structural rearrangement of Y chromosome

Genetic analysis of a rare case with Disorder of sex development due to structural rearrangement of Y chromosome

Application of low-depth whole genome sequencing for copy number variation analysis in children with disorders of sex development

Application of low-depth whole genome sequencing for copy number variation analysis in children with disorders of sex development

Molecular study and genotype-phenotype in Chinese female patients with 46, XY disorders of sex development.

Molecular study and genotype-phenotype in Chinese female patients with 46, XY disorders of sex development.

Two females presenting primary amenorrhea diagnosed with Kallmann syndrome caused by novel FGFR1 variants.

Two females presenting primary amenorrhea diagnosed with Kallmann syndrome caused by novel FGFR1 variants.

Genetic analysis of a case with ectodermal dysplasia using whole exome sequencing

Genetic analysis of a case with ectodermal dysplasia using whole exome sequencing

Novel mutations of the CYP17A1 gene in four Chinese 46,XX cases with partial 17a-hydroxylase/17,20-lyase deficiency.

Novel mutations of the CYP17A1 gene in four Chinese 46,XX cases with partial 17a-hydroxylase/17,20-lyase deficiency.

A Chinese child with hyperpigmentation diagnosed with familial glucocorticoid deficiency type 1 using whole-exome sequencing.

A Chinese child with hyperpigmentation diagnosed with familial glucocorticoid deficiency type 1 using whole-exome sequencing.

Genetic diagnosis for a patient with Leydig cell hypoplasia caused by two novel variants of LHCGR gene

Genetic diagnosis for a patient with Leydig cell hypoplasia caused by two novel variants of LHCGR gene

Phenotypic and genetic characteristics of a child with 7p15 deletion syndrome

Phenotypic and genetic characteristics of a child with 7p15 deletion syndrome

Clinical and Genetic Characteristics of 17 α-Hydroxylase/17, 20-Lyase Deficiency: c.985_987delTACinsAA Mutation of CYP17A1 Prevalent in the Chinese Han Population.

Clinical and Genetic Characteristics of 17 α-Hydroxylase/17, 20-Lyase Deficiency: c.985_987delTACinsAA Mutation of CYP17A1 Prevalent in the Chinese Han Population.