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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.American Journal of Medical Genetics. Part A|February 24, 2015
A novel mutation in COL4A1 gene: a possible cause of early postnatal cerebrovascular eventsAlice Decio, Davide Tonduti, Anna Pichiecchio, et al.American Journal of Medical Genetics. Part A|February 7, 2025
Clinical Insights Into Nabais Sá-De Vries Syndrome due to a Novel SPOP Mutation: Neuromotor, Cognitive, Adaptive, Behavioral, and Neurovisual FeaturesJessica Galli, Erika Loi, Federica Zanardini, et al.American Journal of Medical Genetics. Part A|March 19, 2011
Clinical, cytogenetic and molecular-cytogenetic characterization of a patient with a de novo tandem proximal-intermediate duplication of 16q and review of the literatureFortunato Lonardo, Lucia Perone, Marianna Maioli, et al.American Journal of Medical Genetics. Part A|June 12, 2008
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformationTiziano Pramparo, Manuela de Gregori, Stefania Gimelli, et al.Human Mutation|January 31, 2007
Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2Roberto Giorda, Roberto Ciccone, Giorgio Gimelli, et al.Journal of Personalized Medicine|February 25, 2022
Acceptance of COVID-19 and Influenza Vaccine Co-Administration: Insights from a Representative Italian SurveyAlexander Domnich, Riccardo Grassi, Elettra Fallani, et al.Human Genetics|July 13, 2010
Breakpoint determination of 15 large deletions in Peutz-Jeghers subjectsNicoletta Resta, Roberto Giorda, Rosanna Bagnulo, et al.European Journal of Medical Genetics|August 5, 2008
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrheaElena Rossi, Anna Pia Verri, Maria Grazia Patricelli, et al.Case Reports in Genetics|August 29, 2013
Idiopathic central precocious puberty associated with 11 mb de novo distal deletion of the chromosome 9 short armMariangela Cisternino, Erika Della Mina, Laura Losa, et al.Pageof 6