Search research articles
Contact Us
Filters
Showing results (1-10 of 9) with videos related to
Page
of 1
Sort By:
Molecular Genetics & Genomic Medicine
|
December 20, 2018
Evaluation of copy number variant detection from panel-based next-generation sequencing data
Ruen Yao, Tingting Yu, Yanrong Qing, et al.
Molecular Genetics & Genomic Medicine
|
October 19, 2020
TRPS1 mutation detection in Chinese patients with Tricho-rhino-phalangeal syndrome and identification of four novel mutations
Chen Wang, Yufei Xu, Yanrong Qing, et al.
Asian Pacific Journal of Allergy and Immunology
|
January 2, 2021
Novel variants in CIITA caused type II bare lymphocyte syndrome: A case report
Yi Zhang, Yuko Yokoyama, Yanrong Qing, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
July 15, 2019
[Analysis of SATB2 gene mutation in a child with Glass syndrome]
Meili Lin, Ruen Yao, Jing Lu, et al.
International Journal of Molecular Sciences
|
April 20, 2017
Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency
Niu Li, Guoying Chang, Yufei Xu, et al.
Translational Pediatrics
|
November 11, 2025
Two Chinese patients with Basilicata-Akhtar syndrome caused by novel <i>MSL3</i> variants: a case report and literature review
Yanrong Qing, Feihan Hu, Wei Su, et al.
Molecular and Cellular Endocrinology
|
August 21, 2018
Increased transactivation and impaired repression of β-catenin-mediated transcription associated with a novel SOX3 missense mutation in an X-linked hypopituitarism pedigree with modest growth failure
Tingting Yu, Guoying Chang, Qing Cheng, et al.
European Journal of Endocrinology
|
July 6, 2019
New insights from unbiased panel and whole-exome sequencing in a large Chinese cohort with disorders of sex development
Yufei Xu, Yirou Wang, Niu Li, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
April 12, 2017
Novel pathogenic ACAN variants in non-syndromic short stature patients
Xuyun Hu, Baoheng Gui, Jiasun Su, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 9) with videos related to
Sort By:
Page
of 1
Molecular Genetics & Genomic Medicine
|
December 20, 2018
Evaluation of copy number variant detection from panel-based next-generation sequencing data
Ruen Yao, Tingting Yu, Yanrong Qing, et al.
Molecular Genetics & Genomic Medicine
|
October 19, 2020
TRPS1 mutation detection in Chinese patients with Tricho-rhino-phalangeal syndrome and identification of four novel mutations
Chen Wang, Yufei Xu, Yanrong Qing, et al.
Asian Pacific Journal of Allergy and Immunology
|
January 2, 2021
Novel variants in CIITA caused type II bare lymphocyte syndrome: A case report
Yi Zhang, Yuko Yokoyama, Yanrong Qing, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
July 15, 2019
[Analysis of SATB2 gene mutation in a child with Glass syndrome]
Meili Lin, Ruen Yao, Jing Lu, et al.
International Journal of Molecular Sciences
|
April 20, 2017
Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency
Niu Li, Guoying Chang, Yufei Xu, et al.
Translational Pediatrics
|
November 11, 2025
Two Chinese patients with Basilicata-Akhtar syndrome caused by novel <i>MSL3</i> variants: a case report and literature review
Yanrong Qing, Feihan Hu, Wei Su, et al.
Molecular and Cellular Endocrinology
|
August 21, 2018
Increased transactivation and impaired repression of β-catenin-mediated transcription associated with a novel SOX3 missense mutation in an X-linked hypopituitarism pedigree with modest growth failure
Tingting Yu, Guoying Chang, Qing Cheng, et al.
European Journal of Endocrinology
|
July 6, 2019
New insights from unbiased panel and whole-exome sequencing in a large Chinese cohort with disorders of sex development
Yufei Xu, Yirou Wang, Niu Li, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
April 12, 2017
Novel pathogenic ACAN variants in non-syndromic short stature patients
Xuyun Hu, Baoheng Gui, Jiasun Su, et al.
Page
of 1