E-LIB Suche - Ergebnisse für: Sanoguera-Miralles, Lara

1

Systematic Minigene-Based Splicing Analysis and Tentative C..:

Sanoguera-Miralles, Lara ; Valenzuela-Palomo, Alberto ; Bueno-Martínez, Elena...
Clinical Chemistry. 70 (2023) 1 - p. 319-338 , 2023

Link: https://doi.org/10.1093/..

2

Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene ..:

Valenzuela-Palomo, Alberto ; Sanoguera-Miralles, Lara ; Bueno-Martínez, Elena...
Cancers. 14 (2022) 18 - p. 4541 , 2022

Link: https://doi.org/10.3390/..

3

Germline Variants of CYBA and TRPM4 Predispose to Familial ..:

Zhu, Lizhen ; Miao, Beiping ; Dymerska, Dagmara...
Cancers. 14 (2022) 3 - p. 670 , 2022

Link: https://doi.org/10.3390/..

4

Minigene Splicing Assays Identify 20 Spliceogenic Variants ..:

Sanoguera-Miralles, Lara ; Bueno-Martínez, Elena ; Valenzuela-Palomo, Alberto...
Cancers. 14 (2022) 12 - p. 2960 , 2022

Link: https://doi.org/10.3390/..

5

RAD51D Aberrant Splicing in Breast Cancer: Identification o..:

Bueno-Martínez, Elena ; Sanoguera-Miralles, Lara ; Valenzuela-Palomo, Alberto...
Cancers. 13 (2021) 11 - p. 2845 , 2021

Link: https://doi.org/10.3390/..

6

UGT1A1 Variants c.864+5G>T and c.996+2_996+5del of a Crigle..:

Gailite, Linda ; Valenzuela-Palomo, Alberto ; Sanoguera-Miralles, Lara...
Frontiers in Genetics. 11 (2020) - p. , 2020

Link: https://doi.org/10.3389/..

7

Comprehensive Functional Characterization and Clinical Inte..:

Sanoguera-Miralles, Lara ; Valenzuela-Palomo, Alberto ; Bueno-Martínez, Elena...
Cancers. 12 (2020) 12 - p. 3771 , 2020

Link: https://doi.org/10.3390/..

8

Splicing predictions, minigene analyses and ACMG/AMP clinic..:

Valenzuela-Palomo, Alberto ; Bueno-Martínez, Elena ; Sanoguera-Miralles, Lara...
#PLACEHOLDER_PARENT_METADATA_VALUE#. , 2022

Link: http://hdl.handle.net/10..

9

Splicing Functional Assays of ATM splice-site variants iden..:

Bueno-Martínez, Elena ; Valenzuela-Palomo, Alberto ; Sanoguera-Miralles, Lara.
#PLACEHOLDER_PARENT_METADATA_VALUE#. , 2022

Link: http://hdl.handle.net/10..

10

Germline variants of CYBA and TRPM4 predispose to familial ..:

Zhu, Lizhen ; Miao, Beiping ; Dymerska, Dagmara...
https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/92498. , 2022

Link: https://opus.bibliothek...

11

Splicing analysis of 16 PALB2 clinVar variants by minigene ..:

Valenzuela-Palomo, Alberto ; Sanoguera-Miralles, Lara ; Bueno-Martínez, Elena...
Publisher's version. , 2022

Link: http://hdl.handle.net/10..

12

Supplementary files of the article: Germline variants of CY..:

Zhu, Lizhen ; Miao, Beiping ; Dymerska, Dagmara...
Publisher's version. , 2022

Link: http://hdl.handle.net/10..

13

Splicing Functional Assays of RAD51C splice-site variants r..:

Sanoguera-Miralles, Lara ; Velasco, Eladio
Lara Sanoguera-Miralles, Elena Bueno-Martínez, Alberto Valenzuela-Palomo, Ada Esteban-Sánchez, Inés Llinares-Burguet, Pedro Pérez-Segura, Alicia García-Álvarez, Miguel de la Hoya, Eladio A. Velasco-Sampedro. Minigene splicing assays identify 20 spliceogenic variants of the breast/ovarian cancer susceptibility gene RAD51C [In press].. , 2022

Link: http://hdl.handle.net/10..

14

Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene ..:

Valenzuela-Palomo, Alberto ; Sanoguera-Miralles, Lara ; Bueno-Martínez, Elena...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9496955/. , 2022

Link: http://www.ncbi.nlm.nih...

15

Splicing predictions, minigene analyses, and ACMG-AMP clini..:

Valenzuela-Palomo, Alberto ; Bueno-Martínez, Elena ; Sanoguera-Miralles, Lara...
https://www.repository.cam.ac.uk/handle/1810/332266. , 2022

Link: https://www.repository.c..