Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Eduardo Fidel Tizzano"'
Autor:
Lorraine Glennie, Marta Codina Solà, Mar Xunclà, Gloria Aparicio Español, Elena Garcia-Arumí, Eduardo Fidel Tizzano, Nicola T. Wood, Thomas J. Macartney, Amaia Lasa-Aranzasti, Gopal P. Sapkota
Publikováno v:
Open Biology, Vol 14, Iss 7 (2024)
Palmoplantar keratoderma (PPK) is a multi-faceted skin disorder characterized by the thickening of the epidermis and abrasions on the palms and soles of the feet. Among the genetic causes, biallelic pathogenic variants in the FAM83G gene have been as
Externí odkaz:
https://doaj.org/article/f83bbced95d14422844e09e4000c188d
Autor:
Sara Olivan Garcia, Ana Cristina Calvo, Amaya Rando, Mireia Herrando-Grabulosa, Raquel Manzano, Pilar Zaragoza, Eduardo Fidel Tizzano, Jose Aguilera, Rosario Osta
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 9 (2016)
Spinal muscular atrophy (SMA) is a hereditary childhood disease that causes paralysis and progressive degeneration of skeletal muscles and spinal motor neurons. SMA is associated with reduced levels of full-length Survival of Motor Neuron (SMN) prote
Externí odkaz:
https://doaj.org/article/0031c1f48fce4c76a450a137230d212c
Autor:
Marta Codina-Solà, Laura Trujillano, Anna Abulí, Eulàlia Rovira-Moreno, Patricia Muñoz-Cabello, Berta Campos, Paula Fernández-Álvarez, Dolors Palau, Estela Carrasco, Irene Valenzuela, Anna Maria. Cueto-González, Amaia Lasa-Aranzasti, Javier Limeres, Jordi Leno-Colorado, Mar Costa-Roger, Alejandro Moles-Fernández, Judith Balmaña, Orland Díez, Ivon Cuscó, Elena Garcia-Arumí, Eduardo Fidel Tizzano
Publikováno v:
European Journal of Human Genetics. 31:223-230
Clinical exome sequencing has the potential to identify pathogenic variants unrelated to the purpose of the study (secondary findings, SFs). Data describing actual choices of SFs in participants in a clinical setting and factors influencing their dec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd06709fa3180f7d1f259fd866df2a46
https://doi.org/10.1038/s41431-022-01240-5
https://doi.org/10.1038/s41431-022-01240-5