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María Machío Castelló
María Machío Castelló
Medicine
Bioinformatics
Missense mutation
Exome sequencing
Laforin
3
Papers
1
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0
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An Empirical Pipeline for Personalized Diagnosis of Lafora Disease Mutations
2021
Social Science Research Network
M. Kathryn Brewer
María Machío Castelló
Rosa Viana
Jeremiah Wayne
Andrea Kuchtová
Zoe R. Simmons
Sarah Sternbach
Sheng Li
Maria Adelaida Garcia-Gimeno
José M. Serratosa
Pascual Sanz
Craig W. Vander Kooi
Matthew S. Gentry
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An empirical pipeline for personalized diagnosis of Lafora disease mutations
2021
bioRxiv
M. K. Brewer
María Machío Castelló
Rosa Viana
Jeremiah Wayne
Andrea Kuchtová
Zoe R. Simmons
Sarah Sternbach
Sheng Li
Maria Adelaida Garcia-Gimeno
José M. Serratosa
Pascual Sanz
C.W. Vander Kooi
Matthew S. Gentry
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Incomplete cavernous sinus syndrome as the initial manifestation of a previously undetected metastatic prostate adenocarcinoma
2017
Head and Neck-journal for The Sciences and Specialties of The Head and Neck
María Machío Castelló
Diego Escobar Montatixe
Carlos Cenjor Español
José Miguel Villacampa Aubá
Julia Montoya Bordón
Rafael Carias Calix
Rafael Saez Pinel
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