P366: A comprehensive workflow for diagnosis and management of rare bone diseases by integrating deep phenotyping and genetic analysis

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Main Authors: Guozhuang Li, Kexin Xu, Jianguo Zhang, Nan Wu
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S294977442500370X
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author Guozhuang Li
Kexin Xu
Jianguo Zhang
Nan Wu
author_facet Guozhuang Li
Kexin Xu
Jianguo Zhang
Nan Wu
author_sort Guozhuang Li
collection DOAJ
format Article
id doaj-art-3daebbc8ceee413eb8d4ff46a954fceb
institution DOAJ
issn 2949-7744
language English
publishDate 2025-01-01
publisher Elsevier
record_format Article
series Genetics in Medicine Open
spelling doaj-art-3daebbc8ceee413eb8d4ff46a954fceb2025-08-20T03:14:32ZengElsevierGenetics in Medicine Open2949-77442025-01-01310233110.1016/j.gimo.2025.102331P366: A comprehensive workflow for diagnosis and management of rare bone diseases by integrating deep phenotyping and genetic analysisGuozhuang Li0Kexin Xu1Jianguo Zhang2Nan Wu3Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, ChinaDepartment of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, ChinaDepartment of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, ChinaDepartment of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, Chinahttp://www.sciencedirect.com/science/article/pii/S294977442500370X
spellingShingle Guozhuang Li
Kexin Xu
Jianguo Zhang
Nan Wu
P366: A comprehensive workflow for diagnosis and management of rare bone diseases by integrating deep phenotyping and genetic analysis
Genetics in Medicine Open
title P366: A comprehensive workflow for diagnosis and management of rare bone diseases by integrating deep phenotyping and genetic analysis
title_full P366: A comprehensive workflow for diagnosis and management of rare bone diseases by integrating deep phenotyping and genetic analysis
title_fullStr P366: A comprehensive workflow for diagnosis and management of rare bone diseases by integrating deep phenotyping and genetic analysis
title_full_unstemmed P366: A comprehensive workflow for diagnosis and management of rare bone diseases by integrating deep phenotyping and genetic analysis
title_short P366: A comprehensive workflow for diagnosis and management of rare bone diseases by integrating deep phenotyping and genetic analysis
title_sort p366 a comprehensive workflow for diagnosis and management of rare bone diseases by integrating deep phenotyping and genetic analysis
url http://www.sciencedirect.com/science/article/pii/S294977442500370X
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AT kexinxu p366acomprehensiveworkflowfordiagnosisandmanagementofrarebonediseasesbyintegratingdeepphenotypingandgeneticanalysis
AT jianguozhang p366acomprehensiveworkflowfordiagnosisandmanagementofrarebonediseasesbyintegratingdeepphenotypingandgeneticanalysis
AT nanwu p366acomprehensiveworkflowfordiagnosisandmanagementofrarebonediseasesbyintegratingdeepphenotypingandgeneticanalysis