基本信息
views: 0
![](https://originalfileserver.aminer.cn/sys/aminer/icon/show-trajectory.png)
Bio
My research is focused on genetic disorders of bone and cartilage (skeletal dysplasias) and short stature syndromes. The goals are to identify genes causing these disorders, understand the biological function of these genes, gain insights in the phenotype-genotype correlations and understand genetic regulation of growth and bone development. I have a particular interest in type 2 collagen disorders, acrocapitofemoral dysplasia and melorheostosis.
Research Interests
Papers共 799 篇Author StatisticsCo-AuthorSimilar Experts
By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
时间
引用量
主题
期刊级别
合作者
合作机构
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 142-143
Cited0Views0Bibtex
0
0
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2024)
The Journal of Clinical Endocrinology & Metabolism (2024)
CALCIFIED TISSUE INTERNATIONALno. 2 (2024): 171-181
The Journal of clinical endocrinology and metabolismno. 7 (2024): 1891-1898
Svein Fredwall,Moeenaldeen AlSayed,Tawfeg Ben-Omran,Silvio Boero, Valérie Cormier-Daire, Brigitte Fauroux,Encarna Guillén-Navarro, Florian Innig, Philip Kunkel,Christian Lampe,Mohamad Maghnie,Klaus Mohnike,
Advances in therapyno. 7 (2024): 2545-2558
American journal of medical genetics. Part Ano. 5 (2023): 1164-1209
Load More
Author Statistics
Co-Author
Co-Institution
D-Core
- 合作者
- 学生
- 导师
Data Disclaimer
The page data are from open Internet sources, cooperative publishers and automatic analysis results through AI technology. We do not make any commitments and guarantees for the validity, accuracy, correctness, reliability, completeness and timeliness of the page data. If you have any questions, please contact us by email: report@aminer.cn