Carmen Ayuso - Fundacion Jimenez Diaz

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个人简介

Carmen Ayuso currently works at the Servicio de Genetica Clinica, Fundacion Jimenez Diaz. Their current project is 'Congenital glaucoma'.

研究兴趣

论文共 672 篇作者统计合作学者相似作者

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Creation of an Isogenic Human Ipsc-Based RGC Model of Dominant Optic Atrophy Harboring the Pathogenic Variant C.1861c>t (p.gln621ter) in the OPA1 Gene

Marta Garcia-Lopez, Lydia Jimenez-Vicente, Raquel Gonzalez-Jabardo, Helena Dorado,Irene Gomez-Manjon,Miguel Angel Martin,Carmen Ayuso,Joaquin Arenas,Maria Esther Gallardo

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES（2024）

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Apolipoprotein E-ε2 and Resistance to Atherosclerosis in Midlife: the PESA Observational Study

Raquel Toribio-Fernandez,Catarina Tristao-Pereira,Juan Carlos Silla-Castro,Sergio Callejas,Belen Oliva,Irene Fernandez-Nueda,Ines Garcia-Lunar,Cristina Perez-Herreras,Jose Maria Ordovas,Pilar Martin,Fiona Blanco-Kelly,Carmen Ayuso,

CIRCULATION RESEARCH（2024）

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Lidia Fernandez-Caballero, Inmaculada Martin Merida,Fiona Blanco-Kelly,Maria Jose Trujillo Tiebas,Almudena Avila Fernandez,Marta del Pozo Valero, Irene Perea-Romero,Saoud Tahsin-Swafiri,Fermina Lopez-Grondona,Ana Isabel Sanchez Barbero,Olga Zurita,Gonzalo Nunez Moreno,

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 117-117

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The P.c759f Variant in USH2A is a Pathogenic Mutation: Systematic Literature Review and Meta-Analysis of 524 Genotypes

Francesca Cancellieri,Ji Hoon Han,Irene Perea-Romero,Carmen Ayuso,Mathieu Quinodoz,Carlo Rivolta

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 375-375

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Measurement of J/ψ and Ψ(2s) Production in P+p and P+d Interactions at 120 GeV

C. H. Leung,K. Nagai,K. Nakano, D. Nawarathne,J. Dove,S. Prasad,N. Wuerfel,C. A. Aidala,J. Arrington,C. Ayuso,C. L. Barker,C. N. Brown,

Physics Letters B（2024）

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Minigenes and Long Read Sequencing for the Analysis of Splicing Variants Located in Acceptor Sites of the PAX6 Gene

Carolina Ruiz-Sanchez,Alejandra Tamayo,Gonzalo Nunez Moreno,Cristina Rodilla,Carmen Ayuso,Pablo Minguez,Marta Corton

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 122-123

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Lidia Fernandez-Caballero, Inmaculada Martin-Merida,Fiona Blanco-Kelly,Almudena Avila-Fernandez,Ester Carreno,Patricia Fernandez-San Jose,Cristina Irigoyen,Belen Jimenez-Rolando,Fermina Lopez-Grondona,Ignacio Mahillo,Maria Pilar Martin-Gutierrez,Pablo Minguez,

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES（2024）

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Identification of Gap Junction Protein Alpha 8 (GJA8) Variants in Eleven Families with Microphthalmia and Cataract: Further Genotype-Phenotype Correlation

Solomon Merepa, Lidiya Talbot,Dorine Bax, Fiona Watkins,Fabiola Ceroni,Richard Holt,Linda S. Reis,Tanya Bardakjian,Adele Schneider,Alejandra Damian,Maria Jose Trujillo Tiebas,Carmen Ayuso,

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 382-382

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Clinical and Genetic Analysis of Patients with TK2 Deficiency

Francisco Ceballos,Pablo Serrano-Lorenzo,Laura Bermejo-Guerrero,Alberto Blazquez,Juan F. Quesada-Espinosa,Jorge Amigo,Pablo Minguez,Carmen Ayuso,Elena Garcia-Arumi,Nuria Muelas,Teresa Jaijo,Andres Nascimento,

NEUROLOGY-GENETICSno. 2 (2024)

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Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy

Francesco Testa,Ester Carreno,L. Ingeborgh van den Born,Paolo Melillo, Irene Perea-Romero,Valentina Di Iorio,Giulia Risca,Clemente Maria Iodice,Ronald J. E. Pennings,Marianthi Karali,Sandro Banfi,Alberto Auricchio,

Investigative Ophthalmology & Visual Scienceno. 6 (2024): 25-25

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