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The Journal of Obstetrics and Gynaecology Research|August 3, 2021
Two females presenting primary amenorrhea diagnosed with Kallmann syndrome caused by novel FGFR1 variantsJunke Xia, Xiao Luo, Xinyuan Zhang, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|March 6, 2024
[Analysis of a child with Microvillus inclusion disease due to variants of MYO5B gene and a literature review]Junke Xia, Xinyuan Zhang, Hui Liu, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|May 31, 2024
[Analysis of PAH gene variants and prenatal diagnosis for 43 Chinese pedigrees affected with Phenylketonuria]Yuqiong Chai, Haofeng Ning, Junke Xia, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|November 12, 2020
[Genetic analysis of a case with ectodermal dysplasia using whole exome sequencing]Junke Xia, Panlai Shi, Chen Chen, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|January 29, 2023
[Application of low-depth whole genome sequencing for copy number variation analysis in children with disorders of sex development]Junke Xia, Yaqin Hou, Peng Dai, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|October 31, 2023
[Genetic analysis of a rare case with Disorder of sex development due to structural rearrangement of Y chromosome]Manli Mi, Junke Xia, Yaqin Hou, et al.
Steroids|June 7, 2021
Novel mutations of the CYP17A1 gene in four Chinese 46,XX cases with partial 17a-hydroxylase/17,20-lyase deficiencyYanjie Xia, Panlai Shi, Junke Xia, et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology|August 2, 2021
Molecular study and genotype-phenotype in Chinese female patients with 46, XY disorders of sex developmentJunke Xia, Jing Wu, Chen Chen, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|August 8, 2020
[Phenotypic and genetic characteristics of a child with 7p15 deletion syndrome]Jing Wu, Binghua Dou, Ge Meng, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|August 8, 2020
[Genetic diagnosis for a patient with Leydig cell hypoplasia caused by two novel variants of LHCGR gene]Junke Xia, Luping Li, Fuhua Duan, et al.
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