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Research Interests

Papers共 104 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
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期刊级别
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Genome Sequencing Identify Chromosome 9 Inversions Disrupting ENG in 2 Unrelated HHT Families
M. Tusseau,M. Eyries,N. Chatron,F. Coulet,A. Guichet, E. Colin,B. Demeer,H. Maillard, J. Thevenon,C. Lavigne, V. Saillour, C. Paris, J. M. De St Agathe, M. Pujalte,A. Guilhem,S. Dupuis-Girod,G. Lesca
EUROPEAN JOURNAL OF MEDICAL GENETICS (2024)
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De novo splice pathogenic variant in the ODC1 gene causing Bachmann-Bupp syndrome in a French patient
Yosra Halleb,Marine Tessarech,Alban Ziegler, Vincent Flurin, Dominique Martin Coignard,Dominique Bonneau,Agnes Guichet,Radka Stoeva
EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 232-232
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Author Statistics

#Papers: 107

#Citation: 2985

H-Index: 28

G-Index: 54

Sociability: 7

Diversity: 3

Activity: 20

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