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Bone|December 17, 2014
Areal bone mineral density in children and adolescents with Marfan syndrome: evidence of an evolving problemGiuliana Trifirò, Susan Marelli, Maurizio Viecca, et al.
Bone|March 31, 2020
Increased fracture rate in children and adolescents with Marfan syndromeGiuliana Trifirò, Stefano Mora, Susan Marelli, et al.
European Journal of Medical Genetics|September 5, 2022
Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletionMaria Clara Bonaglia, Marco Fichera, Susan Marelli, et al.
Cytogenetic and Genome Research|February 5, 2020
Unbalanced X;Autosome Translocations May Lead to Mild Phenotypes and Are Associated with Autoimmune DiseasesClaudia Ciaccio, Serena Redaelli, Angela Bentivegna, et al.
Plos One|June 9, 2021
Is SF-12 a valid and reliable measurement of health-related quality of life among adults with Marfan syndrome? A confirmatory studyNathasha Udugampolage, Rosario Caruso, Mariangela Panetta, et al.
Plos One|September 20, 2019
NGS analysis in Marfan syndrome spectrum: Combination of rare and common genetic variants to improve genotype-phenotype correlation analysisDavide Gentilini, Antonino Oliveri, Teresa Fazia, et al.
Clinical Anatomy (New York, N.Y.)|December 12, 2017
The face in marfan syndrome: A 3D quantitative approach for a better definition of dysmorphic featuresClaudia Dolci, Valentina Pucciarelli, Daniele M Gibelli, et al.
Seizure|January 29, 2023
A case of a childhood onset developmental encephalopathy with a novel de novo truncating variant in the Membrane Protein Palmitoylated 5 (MPP5) geneNicoletta Zanotta, Elena Panzeri, Sara Minghetti, et al.
European Journal of Medical Genetics|October 24, 2006
Subtelomeric trisomy 21q: a new benign chromosomal variantMaria Clara Bonaglia, Susan Marelli, Giulietta Gottardi, et al.
Epilepsia Open|March 29, 2018
Partial deletion of DEPDC5 in a child with focal epilepsyMaria Clara Bonaglia, Roberto Giorda, Roberta Epifanio, et al.
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