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Papers共 35 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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P783: Identification of a Novel Variant in the MAD1L1 Gene in an Individual with Mosaic Variegated Aneuploidy Syndrome
Veronica Ortiz, Audra Iness, Haowei Du, Nichole Owen,Monika Weisz-Hubshman
Genetics in Medicine Open (2025): 103152
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C-terminal Frameshift Variants in GPKOW Are Associated with a Multisystemic X-linked Disorder
Jung-Wan Mok,Laura Mackay, Maria Blazo,Elizabeth Mizerik,Jozef Gecz, Renee Carroll,Mathilde Nizon, Sophie Rondeau,Madeleine Joubert, Silvestre Cuinat,Wallid Deb, Fernanda Valle Sirias,Monika Weisz-Hubshman,Shamika Ketkar,Urszula Polak, Alyssa A Tran,Debra Kearney,Neil A Hanchard,Oguz Kanca,Michael F Wangler,Hugo J Bellen, Brendan H Lee, Baylor College of Medicine Center for Precision Medicine Models,Shinya Yamamoto,Keren Machol
Genetics in medicine official journal of the American College of Medical Geneticsno. 7 (2025): 101429-101429
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Author Statistics

#Papers: 35

#Citation: 601

H-Index: 13

G-Index: 21

Sociability: 6

Diversity: 2

Activity: 13

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