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Research Interests

Papers共 661 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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Addendum: Laboratory Analysis of Organic Acids, 2018 Update: A Technical Standard of the American College of Medical Genetics and Genomics (ACMG)
Suzette M. Huguenin, Tina M. Cowan, M. Laura Duque Lasio,Marzia Pasquali, Ross A. Rowsey, Ross Ridsdale, Jing Xiao, Troy Coody,Jerry Vockley
Genetics in Medicine (2025)
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Pathophysiology and Therapies of CKD-associated Secondary Hyperparathyroidism
Sandro Mazzaferro,Lida Tartaglione,Martine Cohen-Solal, Minh Hoang Tran,Marzia Pasquali,Silverio Rotondi, Pablo Ureña Torres
Clinical kidney journalno. Suppl 1 (2025): i15-i26
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C4OH-carnitine: an Important Marker of Ketosis in Patients with and Without Inborn Errors of Metabolism
Maria Laura Duque Lasio, Maria Zaitsev, Judith A Hobert,Irene De Biase,Marzia Pasquali,Tatiana Yuzyuk
Molecular genetics and metabolismno. 4 (2025): 109160-109160
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Establishing a Core Outcome Set for Creatine Transporter Deficiency and Guanidinoacetate Methyltransferase Deficiency
Zahra Nasseri Moghaddam, Emily K Reinhardt,Audrey Thurm,Beth K Potter,Maureen Smith, Celeste Graham, Beth H Tiller,Steven A Baker,Deborah A Bilder, Regina Bogar, Jacobus Britz, Rachel Cafferty, Daniel P Coller,Ton J DeGrauw, Vicky Hall,Gerald S Lipshutz,Nicola Longo,Saadet Mercimek-Andrews,Judith S Miller,Marzia Pasquali,Gajja S Salomons,Andreas Schulze, Celine P Wheaton, Kayla F Williams,Sarah P Young, Jasmine Li, Sofia Balog, Theresa Selucky,Sylvia Stockler-Ipsiroglu,Heidi Wallis
medRxiv the preprint server for health sciences (2024)
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Author Statistics

#Papers: 661

#Citation: 6645

H-Index: 41

G-Index: 77

Sociability: 8

Diversity: 2

Activity: 31

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