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Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology
|
August 18, 2011
Molecular study of five Chinese patients with 46XX partial 17a-hydroxylase/17,20-lyase deficiency
Qinjie Tian, Fengxia Yao, Yiwen Zhang, et al.
American Journal of Medical Genetics. Part A
|
November 25, 2021
Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine-responsive megaloblastic anemia syndrome
Shijing Wu, Zhisheng Yuan, Zixi Sun, et al.
Experimental Eye Research
|
July 22, 2023
FDXR-associated disease in a Chinese cohort: Unraveling expanded ocular phenotypes and genetic spectrum
Xing Wei, Hui Li, Tian Zhu, et al.
Nucleic Acids Research
|
July 18, 2006
MutScreener: primer design tool for PCR-direct sequencing
Fengxia Yao, Ruifang Zhang, Zanhua Zhu, et al.
Experimental Eye Research
|
August 5, 2017
Rep1 copy number variation is an important genetic cause of choroideremia in Chinese patients
Qi Zhou, Fengxia Yao, Xiaoxu Han, et al.
BMC Medical Genetics
|
January 16, 2019
Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome
Chao Ling, Ruifang Sui, Fengxia Yao, et al.
Plos One
|
September 24, 2016
Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations
Shuang Liu, Weimin Zhang, Huiping Shi, et al.
American Journal of Medical Genetics. Part A
|
November 15, 2017
A heterozygous mutation in RPGR associated with X-linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X/46,XX)
Qi Zhou, Fengxia Yao, Feng Wang, et al.
BMC Neurology
|
October 6, 2025
Disease characteristics and treatment status of genetically confirmed spinal muscular atrophy patients: a cross-sectional survey in China
Dingding Zhang, Fengxia Yao, Chao Ling, et al.
Frontiers in Genetics
|
June 5, 2023
A deletion variant Arg616 of androgen receptor in a Chinese family with complete androgen insensitivity syndrome
Leilei Ding, Duoduo Zhang, Fengxia Yao, et al.
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of 4
Search research articles
Search
Showing results (1-10 of 34) with videos related to
Sort By:
Page
of 4
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology
|
August 18, 2011
Molecular study of five Chinese patients with 46XX partial 17a-hydroxylase/17,20-lyase deficiency
Qinjie Tian, Fengxia Yao, Yiwen Zhang, et al.
American Journal of Medical Genetics. Part A
|
November 25, 2021
Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine-responsive megaloblastic anemia syndrome
Shijing Wu, Zhisheng Yuan, Zixi Sun, et al.
Experimental Eye Research
|
July 22, 2023
FDXR-associated disease in a Chinese cohort: Unraveling expanded ocular phenotypes and genetic spectrum
Xing Wei, Hui Li, Tian Zhu, et al.
Nucleic Acids Research
|
July 18, 2006
MutScreener: primer design tool for PCR-direct sequencing
Fengxia Yao, Ruifang Zhang, Zanhua Zhu, et al.
Experimental Eye Research
|
August 5, 2017
Rep1 copy number variation is an important genetic cause of choroideremia in Chinese patients
Qi Zhou, Fengxia Yao, Xiaoxu Han, et al.
BMC Medical Genetics
|
January 16, 2019
Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome
Chao Ling, Ruifang Sui, Fengxia Yao, et al.
Plos One
|
September 24, 2016
Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations
Shuang Liu, Weimin Zhang, Huiping Shi, et al.
American Journal of Medical Genetics. Part A
|
November 15, 2017
A heterozygous mutation in RPGR associated with X-linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X/46,XX)
Qi Zhou, Fengxia Yao, Feng Wang, et al.
BMC Neurology
|
October 6, 2025
Disease characteristics and treatment status of genetically confirmed spinal muscular atrophy patients: a cross-sectional survey in China
Dingding Zhang, Fengxia Yao, Chao Ling, et al.
Frontiers in Genetics
|
June 5, 2023
A deletion variant Arg616 of androgen receptor in a Chinese family with complete androgen insensitivity syndrome
Leilei Ding, Duoduo Zhang, Fengxia Yao, et al.
Page
of 4