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Papers共 80 篇Author StatisticsCo-AuthorSimilar Experts

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Insight into MECP2 Duplication Syndrome: Unraveling Disease Severity and Expression Variability Using Multiomics and Deep Phenotyping
D. Pehlivan, J. D. Bengtsson, S. S. Bajikar,C. M. Grochowski, M. Y. Lun, H. K. Harris, B. Suter, S. Aras, M. B. Ramocki, A. T. Abdelmoity, A. Lindstrandt, F. J. Sedlazeck,J. R. Lupski,H. Y. Zoghbi, C. M. Carvalho
ANNALS OF NEUROLOGY (2025): S22-S22
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P330: Understanding the Disease Mechanisms and Copy Number Variations at 17p11.2 Locus That Do Not Encompass the Dosage Sensitive RAI1 Gene
Shruti Pande,Christopher Grochowski,Davut Pehlivan, Parneet Kaur, Zain Dardas, Haowei Du, Chelsi Rose,Josephine Wincent, Shalini Jhangiani,Lorraine Potocki, Philip Hastings, Jennifer Posey,Anna Lindstrand, Claudia Carvalho, James Lupski
Genetics in Medicine Open (2025): 102295
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Author Statistics

#Papers: 80

#Citation: 1248

H-Index: 21

G-Index: 34

Sociability: 7

Diversity: 2

Activity: 30

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