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Pujol, Roser
292  Ergebnisse:
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1

Diagnóstico citogenético de AF en una cohorte de pacientes ..:

Moreno, Olga ; Paredes, Angela ; Rojas Moreno, Adriana Patricia...
Pediatría.  56 (2023)  2 - p. e410 , 2023
Link: https://doi.org/10.14295..
 
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2

CDK5RAP3, a New BRCA2 Partner That Regulates DNA Repair, Is..:

Minguillón, Jordi ; Ramírez, María José ; Rovirosa, Llorenç...
Cancers.  14 (2022)  2 - p. 353 , 2022
Link: https://doi.org/10.3390/..
 
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3

Upregulation of NKG2D ligands impairs hematopoietic stem ce..:

Casado, José A. ; Valeri, Antonio ; Sanchez-Domínguez, Rebeca...
Journal of Clinical Investigation.  132 (2022)  15 - p. , 2022
Link: https://doi.org/10.1172/..
 
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4

Clinical consequences of BRCA2 hypomorphism:

Castells-Roca, Laia ; Gutiérrez-Enríquez, Sara ; Bonache, Sandra...
npj Breast Cancer.  7 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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5

Next-generation Sequencing in Bone Marrow Failure Syndromes..:

Gálvez, Eva ; Vallespín, Elena ; Arias-Salgado, Elena G....
HemaSphere.  5 (2021)  4 - p. e539 , 2021
Link: https://doi.org/10.1097/..
 
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6

Natural gene therapy by reverse mosaicism leads to improved..:

Ramírez, María José ; Pujol, Roser ; Trujillo‐Quintero, Juan Pablo...
American Journal of Hematology.  96 (2021)  8 - p. 989-999 , 2021
Link: https://doi.org/10.1002/..
 
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7

TALEN mediated gene editing in a mouse model of Fanconi ane..:

Pino-Barrio, Maria José ; Giménez, Yari ; Villanueva, Mariela...
Scientific Reports.  10 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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8

Biallelic germline BRCA1 mutations in a patient with early ..:

Keupp, Katharina ; Hampp, Stephanie ; Hübbel, Annette...
Molecular Genetics & Genomic Medicine.  7 (2019)  9 - p. , 2019
Link: https://doi.org/10.1002/..
 
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9

The FANCM:p.Arg658* truncating variant is associated with r..:

Figlioli, Gisella ; Bogliolo, Massimo ; Catucci, Irene...
npj Breast Cancer.  5 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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10

From exome analysis in idiopathic azoospermia to the identi..:

Krausz, Csilla ; Riera-Escamilla, Antoni ; Chianese, Chiara...
Genetics in Medicine.  21 (2019)  1 - p. 189-194 , 2019
Link: https://doi.org/10.1038/..
 
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11

Individuals with FANCM biallelic mutations do not develop F..:

Catucci, Irene ; Osorio, Ana ; Arver, Brita...
Genetics in Medicine.  20 (2018)  4 - p. 452-457 , 2018
Link: https://doi.org/10.1038/..
 
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12

Biallelic truncating FANCM mutations cause early-onset canc..:

Bogliolo, Massimo ; Bluteau, Dominique ; Lespinasse, James...
Genetics in Medicine.  20 (2018)  4 - p. 458-463 , 2018
Link: https://doi.org/10.1038/..
 
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13

Decapping protein EDC4 regulates DNA repair and phenocopies..:

Hernández, Gonzalo ; Ramírez, María José ; Minguillón, Jordi...
Nature Communications.  9 (2018)  1 - p. , 2018
Link: https://doi.org/10.1038/..
 
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14

Detectable clonal mosaicism in blood as a biomarker of canc..:

Reina-Castillón, Judith ; Pujol, Roser ; López-Sánchez, Marcos...
Blood Advances.  1 (2017)  5 - p. 319-329 , 2017
Link: https://doi.org/10.1182/..
 
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15

Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XP..:

Bogliolo, Massimo ; Schuster, Beatrice ; Stoepker, Chantal...
The American Journal of Human Genetics.  92 (2013)  5 - p. 800-806 , 2013
Link: https://doi.org/10.1016/..
 
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