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Molecular Cytogenetics|September 15, 2016
Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literatureEdoardo Errichiello, Francesca Novara, Anna Cremante, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|August 20, 2011
A wide methodological approach to identify a large duplication in CFTR gene in a CF patient uncharacterised by sequencing analysisLucy Costantino, Damiana Rusconi, Laura Claut, et al.
American Journal of Human Genetics|April 6, 2010
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factorDaniele Ghezzi, Irina Sevrioukova, Federica Invernizzi, et al.
European Journal of Medical Genetics|October 23, 2012
5p13 microduplication syndrome: a new case and better clinical definition of the syndromeFrancesca Novara, Enrico Alfei, Stefano D'Arrigo, et al.
Human Genetics|June 2, 2009
Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhoodFrancesca Novara, Silvana Beri, Maria Ester Bernardo, et al.
Journal of Cellular Biochemistry|March 15, 2011
Cell-cycle phases and genetic profile of bone marrow-derived mesenchymal stromal cells expanded in vitro from healthy donorsValentina Achille, Melissa Mantelli, Giulia Arrigo, et al.
American Journal of Medical Genetics. Part A|January 17, 2020
Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotypeAngela Peron, Francesca Novara, Francesca La Briola, et al.
Human Mutation|November 3, 2016
Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley SyndromeFrancesca Novara, Stefan Groeneweg, Elena Freri, et al.
Cancer Genomics & Proteomics|February 29, 2020
The Search for Molecular Markers in a Gene-Orphan Case Study of a Pediatric Spinal Cord Pilocytic AstrocytomaCarolina Martinelli, Fabio Gabriele, Federico Manai, et al.
Human Pathology|February 22, 2011
CD5(-) diffuse large B-cell lymphoma with peculiar cyclin D1+ phenotype. Pathologic and molecular characterization of a single caseMarco Lucioni, Francesca Novara, Roberta Riboni, et al.
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