Search Results - Peter Hackman

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    Novel Mutations in Titin Exon 363 With Different Phenotypes Including a Founder Mutation in Eastern Europe by Veronica Sian, Maria Francesca Di Feo, Sergei Kurbatov, Anna Vihola, Helena Luque, Fedor Konovalov, Stojan Peric, Cathrina Duffy, Cornelia Kornblum, Kristl G. Claeys, Peter Hackman, Bjarne Udd, Marco Savarese

    Published 2025
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    Artículo Open Access

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    Inferring disease course from differential exon usage in the wide titinopathy spectrum by Maria Francesca Di Feo, Ali Oghabian, Ella Nippala, Mathias Gautel, Heinz Jungbluth, Francesca Forzano, Edoardo Malfatti, Claudia Castiglioni, Ilona Krey, David Gomez Andres, Angela F. Brady, Maria Iascone, Anna Cereda, Lidia Pezzani, Daniel Natera De Benito, Andres Nascimiento Osorio, Berta Estévez Arias, Sergei A. Kurbatov, Tania Attie‐Bitach, Sheela Nampoothiri, Erin Ryan, Michelle Morrow, Svetlana Gorokhova, Brigitte Chabrol, Juha Sinisalo, Heli Tolppanen, Johanna Tolva, Francina Munell, Jessica Camacho Soriano, Maria Angeles Sanchez Duran, Mridul Johari, Homa Tajsharghi, Peter Hackman, Bjarne Udd, Marco Savarese

    Published 2024
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