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American Journal of Medical Genetics. Part A|December 31, 2013
9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome?M Mucciolo, P Magini, A Marozza, et al.BMC Nephrology|February 28, 2019
Non-collagen genes role in digenic Alport syndromeS Daga, C Fallerini, S Furini, et al.Oncogene|July 22, 1998
Cooperation between the RING + B1-B2 and coiled-coil domains of PML is necessary for its effects on cell survivalM Fagioli, M Alcalay, L Tomassoni, et al.Human Mutation|September 20, 2006
The Italian XLMR bank: a clinical and molecular databaseC Pescucci, R Caselli, F Mari, et al.European Journal of Medical Genetics|May 22, 2007
A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic earsR Caselli, M A Mencarelli, F T Papa, et al.European Journal of Medical Genetics|November 8, 2006
2q24-q31 deletion: report of a case and review of the literatureC Pescucci, R Caselli, S Grosso, et al.The American Journal of Pathology|December 1, 1996
Heterogeneous nuclear expression of the promyelocytic leukemia (PML) protein in normal and neoplastic human tissuesM Gambacorta, L Flenghi, M Fagioli, et al.Clinical Genetics|November 19, 2011
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamicsR De Filippis, L Pancrazi, K Bjørgo, et al.Journal of Human Genetics|May 20, 2011
Investigation of modifier genes within copy number variations in Rett syndromeRosangela Artuso, Filomena T Papa, Elisa Grillo, et al.Clinical Genetics|November 19, 2016
Alport syndrome: impact of digenic inheritance in patients managementC Fallerini, M Baldassarri, E Trevisson, et al.Pageof 6