Showing results (21-30 of 64) with videos related to

Sort By:
Pageof 7
Brain & Development|February 14, 2009
A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphismsAntonietta Coppola, Pasquale Striano, Stefania Gimelli, et al.
Human Mutation|September 8, 2005
Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 geneRenata Bocciardi, Roberto Giorda, Valeria Marigo, et al.
American Journal of Medical Genetics. Part A|February 14, 2020
MECP2 duplication syndrome in a patient from CameroonCedrik Tekendo-Ngongang, Sophie Dahoun, Séraphin Nguefack, et al.
Molecular Cancer|August 1, 2009
The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t(8;22)(q24.13;q11.21) in a young girl with dysgerminomaStefania Gimelli, Silvana Beri, Harry A Drabkin, et al.
Neuro-Oncology|October 17, 2008
Presence of 1q gain and absence of 7p gain are new predictors of local or metastatic relapse in localized resectable neuroblastomaAnnalisa Pezzolo, Elena Rossi, Stefania Gimelli, et al.
European Journal of Human Genetics : EJHG|March 21, 2009
Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11)Paola Griseri, Yvonne Vos, Roberto Giorda, 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.
Molecular Cytogenetics|December 6, 2014
Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disordersStefania Gimelli, Valeria Capra, Maja Di Rocco, et al.
Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology|October 12, 2012
Genomic analysis of cattle rob(1;29)Lisa De Lorenzi, Viviana Genualdo, Stefania Gimelli, et al.
Plos One|June 28, 2013
Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal MalformationsElisa Tassano, Jens Buttgereit, Michael Bader, et al.
Pageof 7