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Cortón Pérez, Marta
149  Ergebnisse:
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1

High SARS-CoV-2 viral load is associated with a worse clini..:

Soria, Maria Eugenia ; Cortón Pérez, Marta ; Martínez-González, Brenda...
Access Microbiology.  , 2024
Link: http://hdl.handle.net/10..
 
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2

CPAMD8 loss-of-function underlies non-dominant congenital g..:

Bonet Fernández, Juan Manuel ; Aroca Aguilar, José Daniel ; Corton Pérez, Marta...
(PI15/01193; PI19/00208; RD16/0008/0019; OFTARED; RD16/0008/0004; RD16/0008/0005; PI17_01164;.  , 2020
Link: https://hdl.handle.net/2..
 
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3

Aplicación de técnicas de genómica y proteómica al estudio ..:

Cortón Pérez, Marta
http://hdl.handle.net/10486/2628.  , 2006
Link: http://hdl.handle.net/10..
 
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4

A crowdsourcing database for the copy-number variation of t..:

López-López, Daniel ; Roldán, Gema ; Fernández-Rueda, Jose L....
Human Genomics.  17 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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5

Age-dependent association of clonal hematopoiesis with COVI..:

Del Pozo-Valero, Marta ; Corton, Marta ; López-Rodríguez, Rosario...
GeroScience.  45 (2022)  1 - p. 543-553 , 2022
Link: https://doi.org/10.1007/..
 
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6

New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syn..:

Arteche‐López, Ana ; Avila‐Fernandez, Almudena ; Damian, Alejandra...
Clinical Genetics.  103 (2022)  2 - p. 236-241 , 2022
Link: https://doi.org/10.1111/..
 
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7

Presence of rare potential pathogenic variants in subjects ..:

López-Rodríguez, Rosario ; Del Pozo-Valero, Marta ; Corton, Marta...
Scientific Reports.  12 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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8

Fine Breakpoint Mapping by Genome Sequencing Reveals the Fi..:

Damián, Alejandra ; Ionescu, Raluca Oancea ; Rodríguez de Alba, Marta...
International Journal of Molecular Sciences.  22 (2021)  23 - p. 12713 , 2021
Link: https://doi.org/10.3390/..
 
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9

CSVS, a crowdsourcing database of the Spanish population ge..:

Peña-Chilet, María ; Roldán, Gema ; Perez-Florido, Javier...
Nucleic Acids Research.  49 (2020)  D1 - p. D1130-D1137 , 2020
Link: https://doi.org/10.1093/..
 
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10

Unravelling the pathogenic role and genotype-phenotype corr..:

Pérez-Carro, Raquel ; Blanco-Kelly, Fiona ; Galbis-Martínez, Lilián...
PLOS ONE.  13 (2018)  6 - p. e0199048 , 2018
Link: https://doi.org/10.1371/..
 
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11

Combining targeted panel-based resequencing and copy-number..:

Sanchez-Navarro, Iker ; R. J. da Silva, Luciana ; Blanco-Kelly, Fiona...
Scientific Reports.  8 (2018)  1 - p. , 2018
Link: https://doi.org/10.1038/..
 
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12

Analysis of the PRPF31 Gene in Spanish Autosomal Dominant R..:

Martin-Merida, Inmaculada ; Sanchez-Alcudia, Rocio ; Fernandez-San Jose, Patricia...
Investigative Opthalmology & Visual Science.  58 (2017)  2 - p. 1045 , 2017
Link: https://doi.org/10.1167/..
 
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13

Correction: Corrigendum: Panel-based NGS Reveals Novel Path..:

Perez-Carro, Raquel ; Corton, Marta ; Sánchez-Navarro, Iker...
Scientific Reports.  6 (2016)  1 - p. , 2016
Link: https://doi.org/10.1038/..
 
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14

A Comprehensive Analysis of Choroideremia: From Genetic Cha..:

Sanchez-Alcudia, Rocio ; Garcia-Hoyos, Maria ; Lopez-Martinez, Miguel Angel...
PLOS ONE.  11 (2016)  4 - p. e0151943 , 2016
Link: https://doi.org/10.1371/..
 
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15

Panel-based NGS Reveals Novel Pathogenic Mutations in Autos..:

Perez-Carro, Raquel ; Corton, Marta ; Sánchez-Navarro, Iker...
Scientific Reports.  6 (2016)  1 - p. , 2016
Link: https://doi.org/10.1038/..
 
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