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Clinical Chemistry
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June 6, 2015
Sequence Variant Interpretation 2.0: Perspective on New Guidelines for Sequence Variant Classification
Shaoke Chen, Xuyun Hu, Yiping Shen
Indian Journal of Dermatology, Venereology and Leprology
|
December 5, 2024
Identification of POLA1 gene deep intronic mutation confirms diagnosis of X-linked reticulate pigmentary disorder in a Chinese patient
Yingzi Zhang, Yutong Xie, Xuyun Hu, et al.
American Journal of Translational Research
|
May 21, 2021
Effect of integrated medical and nursing intervention model on quality of life and unhealthy emotion of patients with esophageal cancer undergoing radiotherapy
Zhengyun Wang, Yuqiao Cheng, Jijuan Li, et al.
Gene
|
November 13, 2023
Novel mutation in PARS2 revealed highly variable phenotype of developmental and epileptic encephalopathy-75
Xuyun Hu, Ruolan Guo, Chanjuan Hao, et al.
Pigment Cell & Melanoma Research
|
April 8, 2025
Unusual Autosomal Dominant Inheritance of Oculocutaneous Albinism Type 4 (OCA-4): Clinical and Functional Features From A Chinese Family
Yingzi Zhang, Teng Liu, Qingsong Yang, et al.
Frontiers in Medicine
|
November 28, 2022
Novel pathogenic variants in <i>KIT</i> gene in three Chinese piebaldism patients
Chen Wang, Yingzi Zhang, Xuyun Hu, et al.
Frontiers in Genetics
|
June 30, 2020
Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders
Xuyun Hu, Ruolan Guo, Jun Guo, et al.
Frontiers in Endocrinology
|
February 11, 2025
Case report: Clinical characteristics and Genetical analysis of <i>HSD11B2</i> in three Chinese children with apparent mineralocorticoid excess: a case series
Yuan Ding, Ming Cheng, Bingyan Cao, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
December 9, 2019
[Analysis of SMARCA2 gene mutation in a child with Nicolaides-Baraitser syndrome]
Xuyun Hu, Ruolan Guo, Jun Guo, et al.
Fetal and Pediatric Pathology
|
January 17, 2018
Novel RNASET2 Pathogenic Variants in an East Asian Child with Delayed Psychomotor Development
Yan Sun, Xuyun Hu, Jiqing Song, et al.
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Search research articles
Search
Showing results (1-10 of 61) with videos related to
Sort By:
Page
of 7
Clinical Chemistry
|
June 6, 2015
Sequence Variant Interpretation 2.0: Perspective on New Guidelines for Sequence Variant Classification
Shaoke Chen, Xuyun Hu, Yiping Shen
Indian Journal of Dermatology, Venereology and Leprology
|
December 5, 2024
Identification of POLA1 gene deep intronic mutation confirms diagnosis of X-linked reticulate pigmentary disorder in a Chinese patient
Yingzi Zhang, Yutong Xie, Xuyun Hu, et al.
American Journal of Translational Research
|
May 21, 2021
Effect of integrated medical and nursing intervention model on quality of life and unhealthy emotion of patients with esophageal cancer undergoing radiotherapy
Zhengyun Wang, Yuqiao Cheng, Jijuan Li, et al.
Gene
|
November 13, 2023
Novel mutation in PARS2 revealed highly variable phenotype of developmental and epileptic encephalopathy-75
Xuyun Hu, Ruolan Guo, Chanjuan Hao, et al.
Pigment Cell & Melanoma Research
|
April 8, 2025
Unusual Autosomal Dominant Inheritance of Oculocutaneous Albinism Type 4 (OCA-4): Clinical and Functional Features From A Chinese Family
Yingzi Zhang, Teng Liu, Qingsong Yang, et al.
Frontiers in Medicine
|
November 28, 2022
Novel pathogenic variants in <i>KIT</i> gene in three Chinese piebaldism patients
Chen Wang, Yingzi Zhang, Xuyun Hu, et al.
Frontiers in Genetics
|
June 30, 2020
Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders
Xuyun Hu, Ruolan Guo, Jun Guo, et al.
Frontiers in Endocrinology
|
February 11, 2025
Case report: Clinical characteristics and Genetical analysis of <i>HSD11B2</i> in three Chinese children with apparent mineralocorticoid excess: a case series
Yuan Ding, Ming Cheng, Bingyan Cao, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
December 9, 2019
[Analysis of SMARCA2 gene mutation in a child with Nicolaides-Baraitser syndrome]
Xuyun Hu, Ruolan Guo, Jun Guo, et al.
Fetal and Pediatric Pathology
|
January 17, 2018
Novel RNASET2 Pathogenic Variants in an East Asian Child with Delayed Psychomotor Development
Yan Sun, Xuyun Hu, Jiqing Song, et al.
Page
of 7