Showing results (381-390 of 555) with videos related to
Sort By:
Pageof 56
Oncotarget|December 10, 2017
Endogenous glutamine decrease is associated with pancreatic cancer progressionCecilia Roux, Chiara Riganti, Sammy Ferri Borgogno, et al.American Journal of Medical Genetics. Part A|February 10, 2015
Hypoplastic left heart syndrome and 21q22.3 deletionLaura Ciocca, M Cristina Digilio, Antonietta Lombardo, et al.American Journal of Medical Genetics. Part A|August 5, 2011
Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1Maria Cristina Digilio, Laura Bernardini, Francesca Lepri, et al.BMC Medical Genetics|September 6, 2015
Spinal ependymoma in a patient with Kabuki syndrome: a case reportDavide Roma, Paolo Palma, Rossella Capolino, et al.Genes|September 27, 2025
Congenital Diaphragmatic Hernia and Joint Laxity: A Putative Link with Heritable Connective Tissue DisordersAlessandra Di Pede, Monia Magliozzi, Laura Valfré, et al.American Journal of Human Genetics|June 15, 2006
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotypeClaudio Carta, Francesca Pantaleoni, Gianfranco Bocchinfuso, et al.Heart (British Cardiac Society)|November 26, 2009
Familial transposition of the great arteries caused by multiple mutations in laterality genesAlessandro De Luca, Anna Sarkozy, Federica Consoli, et al.Cell|February 5, 2013
Ubiad1 is an antioxidant enzyme that regulates eNOS activity by CoQ10 synthesisVera Mugoni, Ruben Postel, Valeria Catanzaro, et al.American Journal of Medical Genetics. Part A|August 4, 2020
Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girlMaria C Rossi-Espagnet, Maria L Dentici, Luca Pasquini, et al.Genes|August 6, 2021
Cardiac Defects and Genetic Syndromes: Old Uncertainties and New InsightsGiulio Calcagni, Flaminia Pugnaloni, Maria Cristina Digilio, et al.Pageof 56