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Research Interests

Papers共 276 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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Coupling Deep Phenotypic Quantification with Next-Generation Phenotyping for 192 Individuals with Germline Histonopathies
Emily E Lubin, Elizabeth M Gonzalez, Annabel K Sangree,Emily L Durham,Hannah Klinkhammer, Jing-Mei Li, Sarina M Smith, Dana E Layo-Carris, Kelly J Clark, Ashley J Melendez-Perez, Xiao Min Wang,Rajesh Angireddy, Erin E Weiss,Tahsin Stefan Barakat,Sandra Mercier, Benjamin Cogné,Saskia Koene,Yvonne Hilhorst-Hofstee,Malgorzata Rydzanicz,Rafal Ploski, María de Los Ángeles Gómez Cano, María Palomares-Bralo, Tania Barragán Arévalo,Tiong Yang Tan,Lyndon Gallacher,Suzanne P MacFarland,Rebecca C Ahrens-Nicklas, Tomoki T Nomakuchi, Elizabeth J K Bhoj
HGG advancesno. 3 (2025): 100440-100440
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Decreased Level of TMEM100 in Neonates with Lethal Lung Developmental Disorders Due to Abnormalities in SHH-FOXF1 and TBX4-FGF10 Signaling Pathways
Katarzyna Bzdęga, Gail H Deutsch,Małgorzata Rydzanicz, Witold Błaż, Elżbieta Rafińska-Ważny, Anna P Terpin, Dariia Klepach, Valentyna Zakharova,Rafał Płoski,Tomasz Szczapa, Justyna A Karolak
American journal of medical genetics Part App.e64071-e64071, (2025)
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Author Statistics

#Papers: 276

#Citation: 3777

H-Index: 33

G-Index: 49

Sociability: 7

Diversity: 4

Activity: 34

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