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Santamariña-Pena, Marta
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1

A New Set of in Silico Tools to Support the Interpretation ..:

Porras, Luz-Marina ; Padilla, Natàlia ; Moles-Fernández, Alejandro...
The Journal of Molecular Diagnostics.  26 (2024)  1 - p. 17-28 , 2024
Link: https://doi.org/10.1016/..
 
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2

First international workshop of the ATM and cancer risk gro..:

Lesueur, Fabienne ; Easton, Douglas F. ; Renault, Anne-Laure...
Familial Cancer.  21 (2021)  2 - p. 211-227 , 2021
Link: https://doi.org/10.1007/..
 
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3

A Collaborative Effort to Define Classification Criteria fo..:

Feliubadaló, Lidia ; Moles-Fernández, Alejandro ; Santamariña-Pena, Marta...
Clinical Chemistry.  67 (2020)  3 - p. 518-533 , 2020
Link: https://doi.org/10.1093/..
 
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4

A Collaborative Effort to Define Classification Criteria fo..:

Feliubadaló i Elorza, Maria Lídia ; Moles Fernández, Alejandro ; Santamariña-Pena, Marta...
Reproducció del document publicat a: https://doi.org/10.1093/clinchem/hvaa250.  , 2020
Link: http://hdl.handle.net/24..
 
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5

Computational tools for splicing defect prediction in breas..:

Moles-Fernández, Alejandro ; Duran-Lozano, Laura ; Montalban, Gemma...
Reproducció del document publicat a: https://doi.org/10.3389/fgene.2018.00366.  , 2018
Link: http://hdl.handle.net/24..
 
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6

BRCA1 Circos: a visualisation resource for functional analy..:

Jhuraney, Ankita ; Velkova, Aneliya ; Johnson, Randall...
info:eu-repo/semantics/altIdentifier/doi/10.1136/jmedgenet-2014-102766.  , 2015
Link: https://hal-pasteur.arch..
 
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7

BRCA1 Circos: a visualisation resource for functional analy..:

Jhuraney, Ankita ; Velkova, Aneliya ; Johnson, Randall C...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC.  , 2015
Link: http://www.ncbi.nlm.nih...
 
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8

Comprehensive annotation of splice junctions supports perva..:

Colombo, M ; Blok, M. J ; Whiley, P...
0964-6906.  , 2014
Link: https://hdl.handle.net/2..
 
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9

RAD51C germline mutations found in Spanish site-specific br..:

Vega Gliemmo, Ana ; Carracedo Álvarez, Ángel ; Santamariña Pena, Marta.
0167-6806.  , 2014
Link: https://hdl.handle.net/2..
 
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10

About 1% of the breast and ovarian Spanish families testing..:

Gutierrez-Enriquez, S ; Bonache, S ; de Garibay, GR...
0020-7136.  , 2014
Link: https://hdl.handle.net/2..
 
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11

Large genomic rearrangements of BRCA1 and BRCA2 among patie..:

Fachal Vilar, Laura ; Blanco Pérez, Ana ; Santamariña Pena, Marta..
1932-6203.  , 2014
Link: https://hdl.handle.net/2..
 
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12

Evaluation of a 5-Tier scheme proposed for classification o..:

Fachal Vilar, Laura ; Vega Gliemmo, Ana ; Santamariña Pena, Marta.
1059-7794.  , 2013
Link: https://hdl.handle.net/2..
 
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13

Evaluation of Rare Variants in the New Fanconi Anemia Gene ..:

Vega Gliemmo, Ana ; Santamariña Pena, Marta
1059-7794.  , 2013
Link: https://hdl.handle.net/2..
 
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14

CHEK2 c.1100delC mutation among non-BRCA1/2 Spanish heredit..:

Fachal Vilar, Laura ; Vega Gliemmo, Ana ; Carracedo Álvarez, Ángel..
1699-048X.  , 2013
Link: https://hdl.handle.net/2..
 
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15

Annular elastolytic giant cell granuloma associated to late..:

Alonso González, Julio ; Gutierrez González, Enrique ; Toribio Pérez, Jaime...
1018-8665.  , 2013
Link: https://hdl.handle.net/2..
 
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