Eduardo Fidel Tizzano Ferrari
Investigador post-doc
Grup de recerca
Perfils professionals a les xarxes
Últimes publicacions
- Zwartkruis MM, Elferink MG, Gommers D, Signoria I, Blasco-Pérez L, Costa-Roger M, van der Sel J, Renkens IJ, Green JW, Kortooms JV, Vermeulen C, Straver R, van Deutekom HWM, Veldink JH, Asselman F, Tizzano E, Wadman RI, van der Pol WL, van Haaften GW and Groen EJN Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy. GENOME MEDICINE . 17(1): 26-26.
- Barbero AIS, Valenzuela I, Fernández-Alvarez P, Vazquez É, Cueto-Gonzalez AM, Lasa-Aranzasti A, Trujillano L, Masotto B, Arumí EG and Tizzano E New Insights Into the Spectrum of RASopathies: Clinical and Genetic Data in a Cohort of 121 Spanish Patients. AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 197(3): .
- Valenzuela I, Codina-Solà M, Vazquez E, Cueto-González A, Leno-Colorado J, Lasa-Aranzasti A, Trujillano L, Masotto B, Masas M, Escobar M, García-Arumí E and Tizzano E Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome. GENETICS IN MEDICINE . 26(12): 101288-101288.