Trabajos de Marcos Madruga-Garrido
Trabajos de Nombre
Molecular Biology & Genetics
Listando 4 trabajos del autor/autora 37
Lista de trabajos en el área Molecular Biology & Genetics
Mentions
7
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0
Wikipedia
16
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0
Policy
Article
Retrospective natural history of thymidine kinase 2 deficiency
Garone, Caterina; Taylor, Robert W.; Nascimento, Andres; Poulton, Joanna; Fratter, Carl; Dominguez-Gonzalez, Cristina; Evans, Julie C.; Loos, Mariana; Isohanni, Pirjo; Suomalainen, Anu; Ram, Dipak; Hughes, M. Imelda; McFarland, Robert; Barca, Emanuele; Gom
JOURNAL OF MEDICAL GENETICS
0022-2593 (2018)
DOI /
10.1136/jmedgenet-2017-105012
Green published, Hybrid
Mentions
41
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0
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0
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Article
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain
Gonzalez-Quereda, Lidia; Jose Rodriguez, Maria; Diaz-Manera, Jordi; Alonso-Perez, Jorge; Gallardo, Eduard; Nascimento, Andres; Ortez, Carlos; Natera-de Benito, Daniel; Olive, Montse; Gonzalez-Mera, Laura; Lopez de Munain, Adolfo; Zulaica, Miren; Jose Poza,
GENES
(2020)
DOI /
10.3390/genes11050539
Gold DOAJ, Green published
Mentions
3
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0
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0
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Article
Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy
Dominguez-Gonzalez, Cristina; Badosa, Carmen; Madruga-Garrido, Marcos; Marti, Itxaso; Paradas, Carmen; Ortez, Carlos; Diaz-Manera, Jordi; Berardo, Andres; Alonso-Perez, JOrge; Trifunov, Selena; Cuadras, Daniel; Kalko, Susana G.; Blazquez-Bermejo, Cora; Cam
SCIENTIFIC REPORTS
2045-2322 (2020)
DOI /
10.1038/s41598-020-66940-8
Gold DOAJ, Green published
Mentions
5
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0
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0
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Review
Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency
Dominguez-Gonzalez, Cristina; Madruga-Garrido, Marcos; Hirano, Michio; Marti, Itxaso; Martin, Miguel A.; Munell, Francina; Nascimento, Andres; Olive, Montse; Quan, Joanne; Sardina, M. Dolores; Marti, Ramon; Paradas, Carmen
ORPHANET JOURNAL OF RARE DISEASES
(2021)
DOI /
10.1186/s13023-021-02030-w
Green published, Gold
