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Hemoglobin|April 28, 2016
A Family with γ-Thalassemia and High Hb A2 LevelsGiulia Parmeggiani, Francesca Gualandi, Rita Selvatici, et al.
Genetic Testing|May 3, 2008
The Italian External Quality Assessment scheme for fragile x syndrome: the results of a 5-year surveyVincenzo Falbo, Giovanna Floridia, Fabrizio Tosto, et al.
BMC Medical Genetics|June 7, 2013
Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case reportElena Martoni, Stefania Petrini, Cecilia Trabanelli, et al.
Cardiology|May 12, 2017
Mutation Load of Multiple Ion Channel Gene Mutations in Brugada SyndromeFrancesca Gualandi, Fatima Zaraket, Michele Malagù, et al.
Neuromuscular Disorders : NMD|September 11, 2007
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the humanMarcella Neri, Silvia Torelli, Sue Brown, et al.
Neuromuscular Disorders : NMD|September 13, 2016
Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcriptAlice Todeschini, Francesca Gualandi, Cecilia Trabanelli, et al.
European Journal of Nuclear Medicine and Molecular Imaging|November 12, 2010
Usefulness and limitations of 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy in the aetiological diagnosis of amyloidotic cardiomyopathyClaudio Rapezzi, Candida Cristina Quarta, Pier Luigi Guidalotti, et al.
American Journal of Medical Genetics. Part A|August 4, 2020
A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profileMarianna Farnè, Giovanna M Tedesco, Chiara Bedetti, et al.
Genomics|November 1, 2002
Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin geneLuisa Toffolatti, Barbara Cardazzo, Carlo Nobile, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 5, 2025
Economic evaluation of next-generation sequencing technologies in pediatric patient groups with confirmed or possible rare diseases: A systematic literature reviewMarianna De Stefano, Rudolf van Olden, Elnaz Arjmand, et al.
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