Chapter Biomarkers in Rare Genetic Diseases by Ferlini, Alessandra

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DOAB: description of the publication

Chapter Biomarkers in Rare Genetic Diseases by Ferlini, Alessandra

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OAPEN Library: description of the publication

Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis by Salvi Fabrizio, Yuryev Anton, Balboni Alessandra, Gualandi Francesca, Neri Marcella, Bovolenta Matteo, Ferlini Alessandra, Gemmati Donato, Liboni Alberto, Zamboni Paolo

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The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy by Neri Marcella, Valli Emanuele, Alfano Giovanna, Bovolenta Matteo, Spitali Pietro, Rapezzi Claudio, Muntoni Francesco, Banfi Sandro, Perini Giovanni, Gualandi Francesca, Ferlini Alessandra

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Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-relat... by Merlini Luciano, Bertini Enrico, Mercuri Eugenio, Grumati Paolo, Fabris Marina, Sabatelli Patrizia, Urciuolo Anna, Martoni Elena, Neri Marcella, Bovolenta Matteo, Bonaldo Paolo, Ferlini Alessandra, Gualandi Francesca

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Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype by Brioschi Simona, Gualandi Francesca, Scotton Chiara, Armaroli Annarita, Bovolenta Matteo, Falzarano Maria S, Sabatelli Patrizia, Selvatici Rita, D'Amico Adele, Pane Marika, Ricci Giulia, Siciliano Gabriele, Tedeschi Silvana, Pini Antonella, Vercelli Liliana, De Grandis Domenico, Mercuri Eugenio, Bertini Enrico, Merlini Luciano, Mongini Tiziana, Ferlini Alessandra

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