Хайлтын үр дүнгүүд - Dèlia Yubero
- 5-н 1 - 5 үр дүнгүүдийг харуулж байна
-
1
Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism -н Dèlia Yubero, Núria Brandi, Aída Ormazábal, Àngels García‐Cazorla, Belén Pérez‐Dueñas, Jaime Campistol, Antònia Ribes, Francesc Palau, Rafael Artuch, Judith Armstrong
Хэвлэсэн 2016Artigo -
2
A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities -н Dèlia Yubero, Aritz Adin, Raquel Montero, Cristina Jou, C. Jimenez‐Mallebrera, Àngels García‐Cazorla, A. Nascimento, M. Mar O’Callaghan, Julio Montoya, Laura Gort, Plácido Navas, Antònia Ribes, M. D. Ugarte, Rafael Artuch
Хэвлэсэн 2016Artigo -
3
GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction -н Raquel Montero, Dèlia Yubero, Joan Villarroya, Desirée Henares, Cristina Jou, Maria Angeles Rodríguez, Federico Ramos, A. Nascimento, C. Ortez, Jaume Campistol, Belén Pérez‐Dueñas, Mar O’Callaghan, Mercédes Pineda, Ángeles García‐Cazorla, J. Colomer Oferil, Julio Montoya, Eduardo Ruiz‐Pesini, Sonia Emperador, Marija Meznarič, Laura Campderrós, Susana G. Kalko, Francesc Villarroya, Rafael Artuch, C. Jimenez‐Mallebrera
Хэвлэсэн 2016Artigo -
4
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment -н Marivi V. Cascajo-Almenara, Natalia Juliá‐Palacios, Roser Urreizti, Ana Sánchez‐Cuesta, Daniel J.M. Fernández‐Ayala, Elena García-Díaz, Clara Oliva, Maria del Mar O ́Callaghan, Abraham J. Paredes‐Fuentes, Pedro Moreno, Jordi Muchart, A. Nascimento, C. Ortez, Daniel Natera‐de Benito, M. Pineda, Noelia Rivera, Tyler R. Fortuna, Deepa Rajan, Plácido Navas, Leonardo Salviati, Francesc Palau, Dèlia Yubero, Àngels García‐Cazorla, Udai Bhan Pandey, Carlos Santos–Ocaña, Rafael Artuch
Хэвлэсэн 2024Artigo -
5
Clinical presentation and proteomic signature of patients with <i>TANGO2</i> mutations -н Nadja Mingirulli, Angela Pyle, Denisa Hathazi, Charlotte L. Alston, Nicolai Kohlschmidt, Gina O’Grady, Leigh B. Waddell, Frances J. Evesson, Sandra B. T. Cooper, Christian Turner, Jennifer Duff, Ana Töpf, Dèlia Yubero, Cristina Jou, A. Nascimento, C. Ortez, Àngels García‐Cazorla, Claudia Groß, María del Mar O’Callaghan, Saikat Santra, M A Preece, Michael Champion, Sergei Korenev, Efsthatia Chronopoulou, Anirban Majumdar, Germaine Pierre, Daniel McArthur, Kyle Thompson, Plácido Navas, Antònia Ribes, Frederic Tort, Agatha Schlüter, Aurora Pujol, Raquel Montero, Geòrgia Sarquella-Brugada, Hanns Lochmüller, C. Jimenez‐Mallebrera, Robert W. Taylor, Rafael Artuch, Janbernd Kirschner, Sarah C. Grünert, Andreas Roos, Rita Horváth
Хэвлэсэн 2019Artigo
Хайх хэрэгслүүд:
Холбогдох сэдвүүд
Biology
Gene
Internal medicine
Medicine
Endocrinology
Genetics
Mitochondrion
Biochemistry
Bioinformatics
Biomarker
Coenzyme Q10
Compound heterozygosity
Mitochondrial respiratory chain
Respiratory chain
Algorithm
Andrology
Citrate synthase
Clinical diagnosis
Coenzyme Q – cytochrome c reductase
Cohort
Computational biology
Computer science
Cytochrome c
Cytochrome c oxidase
DNA sequencing
Enzyme
FGF21
Fibroblast growth factor
GDF15
Gene expression