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P232: Diagnostic yield of genome sequencing after non-diagnostic exome sequencing: A retrospective review of 118 cases at a single institution by Kara Eckberg, Hala Deeb, Tori Winter, Zachary Haugstad, Joseph Farris, Joan Steyermark, Filippo Pinto e Vairo, Brendan Lanpher, Radhika Dhamija
Published 2025-01-01Get full text
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O18: BabyFORce: A pioneering program translating variants identified via rapid genome sequencing to targeted therapeutics for neonatal intensive care unit patients by Whitney Thompson, Christopher Schmitz, Filippo Pinto e Vairo, Andrew Haak, Brandi Smith, Eric Klee, Christopher Colby, Lisa Schimmenti, Christopher Moxham, Natalie Downs, Nicole Perfito, Laura Lambert
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Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis. by Alícia Dorneles Dornelles, Osvaldo Artigalás, André Anjos da Silva, Dora Lucia Vallejo Ardila, Taciane Alegra, Tiago Veiga Pereira, Filippo Pinto E Vairo, Ida Vanessa Doederlein Schwartz
Published 2017-01-01Get full text
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P201: The clinical utility of next-generation sequencing (NGS)-based genetic testing in pediatric polycystic kidney disease by Elif Bozkurt, Hana Yang, Jennifer Kemppainen, Tracy Baker, Mohamad Sheikh Najeeb, Whitney Thompson, Cheryl Tran, David Sas, Carl Cramer, Fouad Chebib, Neera Dahl, Vicente Torres, Filippo Pinto E Vairo, Peter Harris, Christian Hanna
Published 2025-01-01Get full text
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