Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Dèlia, Yubero"'
Autor:
Dídac Casas-Alba, Anna Aguilar, Itziar Alonso, María Teresa García, Maria Roberta Cilio, Carmen Fons, Javier López-Pisón, Luis Gutiérrez-Solana, Fernando Ferragut, María Luz Ruiz-Falcó, Víctor Soto-Insuga, Elena González, Tamara Pablos, María José Mas, Sara Hernández, María Vázquez-López, Patricia Fuentes-Pita, Sergio Aguilera-Albesa, Rocío Sánchez-Carpintero, Montserrat Garcia-Puig, Deyanira García-Navas, Helena Alarcón-Martínez, Candelaria González, Rocío Calvo, Ana Extraviz, Jordi Muchart, Francesc Palau, Judith Armstrong, Dèlia Yubero, Carlos Eduardo Valera, Verónica González, Mar O'’Callaghan, Ariadna Borràs, Àngels García-Cazorla, Óscar Casis, Amaia Alquiza, Ainhoa Rodríguez de Yurre, Álvaro Villarroel
Publikováno v:
Pediatric Neurology. 144:11-15
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f7ca79fe2fa10418549d7d88e837375d
https://doi.org/10.1016/j.pediatrneurol.2023.03.004
https://doi.org/10.1016/j.pediatrneurol.2023.03.004
Publikováno v:
International Journal of Molecular Sciences; Volume 23; Issue 13; Pages: 7176
There are challenges in the genetic diagnosis of rare diseases, and pursuing an optimal strategy to identify the cause of the disease is one of the main objectives of any clinical genomics unit. A range of techniques are currently used to characteriz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c7e12d3e2f9e7f140adaed3143d7552
https://pubmed.ncbi.nlm.nih.gov/35806177
https://pubmed.ncbi.nlm.nih.gov/35806177
Autor:
Dèlia Yubero, Núria Brandi, Aida Ormazabal, Àngels Garcia-Cazorla, Belén Pérez-Dueñas, Jaime Campistol, Antonia Ribes, Francesc Palau, Rafael Artuch, Judith Armstrong, Working Group
Publikováno v:
PLoS ONE, Vol 11, Iss 5, p e0156359 (2016)
Next-generation sequencing (NGS) technology has allowed the promotion of genetic diagnosis and are becoming increasingly inexpensive and faster. To evaluate the utility of NGS in the clinical field, a targeted genetic panel approach was designed for
Externí odkaz:
https://doaj.org/article/5c1a46fdcc78496db7ff723af9043709
Autor:
Dèlia, Yubero, Raquel, Montero, Maria, Ramos, Viruna, Neergheen, Plácido, Navas, Rafael, Artuch, Iain, Hargreaves
Publikováno v:
BioFactors (Oxford, England). 41(6)
Kidney dysfunction is being increasingly associated with mitochondrial diseases and coenzyme Q10 (CoQ) deficiency. The assessment of CoQ status requires the biochemical determination of CoQ in biological fluids and different cell types, but no method
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8e981ee3f35b1b3c36815a30ced652b2
https://pubmed.ncbi.nlm.nih.gov/26768296
https://pubmed.ncbi.nlm.nih.gov/26768296
Autor:
Dèlia, Yubero, Raquel, Montero, Mar, O'Callaghan, Mercè, Pineda, Silvia, Meavilla, Veronica, Delgadillo, Cristina, Sierra, Laura, Altimira, Plácido, Navas, Simon, Pope, Marcus, Oppenheim, Viruna, Neergheen, Arunabha, Ghosh, Phillipa, Mills, Peter, Clayton, Emma, Footitt, Maureen, Cleary, Iain, Hargreaves, Simon A, Jones, Simon, Heales, Rafael, Artuch
Publikováno v:
JIMD reports. 25
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by deficiencies of lysosomal enzymes catalyzing degradation of glycosaminoglycans (GAGs). Previously, we reported a secondary plasma coenzyme Q10 (CoQ) deficiency in MPS pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9cc32cdc0bfefe5280d36ed46be6925c
https://pubmed.ncbi.nlm.nih.gov/26205433
https://pubmed.ncbi.nlm.nih.gov/26205433