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Orphanet Journal of Rare Diseases
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March 3, 2025
Shaping the future of care for patients with Ehlers-Danlos syndromes: from multidisciplinary management to precision medicine
Kexin Xu, Guozhuang Li, Terry Jianguo Zhang, et al.
Orphanet Journal of Rare Diseases
|
May 14, 2024
Diagnosis and treatment of the Ehlers-Danlos syndromes in China: synopsis of the first guidelines
Kexin Xu, Guozhuang Li, Zhihong Wu, et al.
American Journal of Medical Genetics. Part A
|
July 3, 2024
First copy number variant in trans with single nucleotide variant in CCN6 causing progressive pseudorheumatoid dysplasia revealed by genome sequencing and deep phenotyping in monozygotic twins
Kexin Xu, Guozhuang Li, Yuchen Niu, et al.
The Journal of Bone and Joint Surgery. American Volume
|
August 5, 2025
The Smallest Worthwhile Effect as a Promising Alternative to the MCID in Estimating PROMs for Adult Idiopathic Scoliosis
Di Liu, Zhengye Zhao, Guozhuang Li, et al.
Biomolecules
|
June 26, 2025
Chromoanagenesis in Osteosarcoma
Guozhuang Li, Nan Wu, Jen Ghabrial, et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao
|
February 16, 2026
Bridging clinical narratives and structured phenotypes with large language models and sentence transformers
Jihao Cai, Guozhuang Li, Yongxin Yang, et al.
The Journal of Bone and Joint Surgery. American Volume
|
April 5, 2023
Retrospective Analysis of Associated Anomalies in 636 Patients with Operatively Treated Congenital Scoliosis
Nan Wu, Lian Liu, Yuanqiang Zhang, et al.
Innovation (Cambridge (Mass.))
|
March 6, 2026
Runx2 mutation plays a key role in the development of scoliosis
Ke Lu, Guizheng Wei, Guozhuang Li, et al.
Orphanet Journal of Rare Diseases
|
October 8, 2024
Integrating deep phenotyping with genetic analysis: a comprehensive workflow for diagnosis and management of rare bone diseases
Guozhuang Li, Kexin Xu, Xiangjie Yin, et al.
American Journal of Medical Genetics. Part A
|
September 26, 2022
TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome
Guozhuang Li, Alanna Strong, Haojun Wang, et al.
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of 2
Search research articles
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Showing results (1-10 of 20) with videos related to
Sort By:
Page
of 2
Orphanet Journal of Rare Diseases
|
March 3, 2025
Shaping the future of care for patients with Ehlers-Danlos syndromes: from multidisciplinary management to precision medicine
Kexin Xu, Guozhuang Li, Terry Jianguo Zhang, et al.
Orphanet Journal of Rare Diseases
|
May 14, 2024
Diagnosis and treatment of the Ehlers-Danlos syndromes in China: synopsis of the first guidelines
Kexin Xu, Guozhuang Li, Zhihong Wu, et al.
American Journal of Medical Genetics. Part A
|
July 3, 2024
First copy number variant in trans with single nucleotide variant in CCN6 causing progressive pseudorheumatoid dysplasia revealed by genome sequencing and deep phenotyping in monozygotic twins
Kexin Xu, Guozhuang Li, Yuchen Niu, et al.
The Journal of Bone and Joint Surgery. American Volume
|
August 5, 2025
The Smallest Worthwhile Effect as a Promising Alternative to the MCID in Estimating PROMs for Adult Idiopathic Scoliosis
Di Liu, Zhengye Zhao, Guozhuang Li, et al.
Biomolecules
|
June 26, 2025
Chromoanagenesis in Osteosarcoma
Guozhuang Li, Nan Wu, Jen Ghabrial, et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao
|
February 16, 2026
Bridging clinical narratives and structured phenotypes with large language models and sentence transformers
Jihao Cai, Guozhuang Li, Yongxin Yang, et al.
The Journal of Bone and Joint Surgery. American Volume
|
April 5, 2023
Retrospective Analysis of Associated Anomalies in 636 Patients with Operatively Treated Congenital Scoliosis
Nan Wu, Lian Liu, Yuanqiang Zhang, et al.
Innovation (Cambridge (Mass.))
|
March 6, 2026
Runx2 mutation plays a key role in the development of scoliosis
Ke Lu, Guizheng Wei, Guozhuang Li, et al.
Orphanet Journal of Rare Diseases
|
October 8, 2024
Integrating deep phenotyping with genetic analysis: a comprehensive workflow for diagnosis and management of rare bone diseases
Guozhuang Li, Kexin Xu, Xiangjie Yin, et al.
American Journal of Medical Genetics. Part A
|
September 26, 2022
TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome
Guozhuang Li, Alanna Strong, Haojun Wang, et al.
Page
of 2