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The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically i... by Maria Pia Leone, Pietro Palumbo, Orazio Palumbo, Ester Di Muro, Massimiliano Chetta, Nicola Laforgia, Nicoletta Resta, Alessandro Stella, Stefano Castellana, Tommaso Mazza, Marco Castori, Massimo Carella, Nenad Bukvic
Published 2020Connect to this object online.
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FACILITATE: A real-world, multicenter, prospective study investigating the utility of a rapid, fully automated real-time PCR assay versus local reference methods for detecting epid... by Anke Behnke, Anne Cayre, Giovanna De Maglio, Giuseppe Giannini, Lionel Habran, Marina Tarsitano, Massimiliano Chetta, David Cappellen, Alexandra Lespagnol, Cecile Le Naoures, Gabriella Massazza, Annarita Destro, Irina Bonzheim, Achim Rau, Achim Battmann, Bettina Kah, Emmanuel Watkin, Michael Hummel
Published 2023Connect to this object online.
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