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Research Interests

Papers共 252 篇Author StatisticsCo-AuthorSimilar Experts

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Bi-allelic UGGT1 Variants Cause a Congenital Disorder of Glycosylation
Zain Dardas, Laura Harrold,Daniel G Calame,Claire G Salter,Takashi Kikuma, Kevin P Guay, Bobby G Ng,Kanae Sano, Ahmad K Saad, Haowei Du,Riccardo Sangermano, Sohil G Patankar,Shalini N Jhangiani,Semra Gürsoy,Mohamed S Abdel-Hamid, Mahmoud K H Ahmed,Reza Maroofian,Rauan Kaiyrzhanov,Kamran Salayev, Wendy D Jones, Ana Pérez Caballero, Lucy McGavin, Michael Spiller,Miranda Durkie, Nick Wood, Lauren O'Grady, Paula Goldenberg,Ann M Neumeyer,Amber Begtrup, Sherif F Abdel-Ghafar,Maha S Zaki,Hilde Van Esch,Jennifer E Posey, Olivia K Wenger, Ethan M Scott,Kinga M Bujakowska,Richard A Gibbs,Davut Pehlivan,Dana Marafi,Joseph S Leslie, Nishanka Ubeyratna,Jacob Day,Martina Owens, Jessica Settle, Soher Balkhy, Abdullah Tamim,Lama Alabdi, Fowzan S Alkuraya,Yoichi Takeda, Hudson H Freeze,Daniel N Hebert,James R Lupski,Andrew H Crosby,Emma L Baple
American journal of human geneticsno. 5 (2025): 1139-1157
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Author Statistics

#Papers: 252

#Citation: 19698

H-Index: 62

G-Index: 138

Sociability: 8

Diversity: 3

Activity: 68

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