E-LIB Suche - Ergebnisse für: Pilar Mur

1

Correction: Exploring Co-occurring POLE Exonuclease and Non..:

Shah, Shreya M. ; Demidova, Elena V. ; Ringenbach, Salena...
Cancer Research Communications. 4 (2024) 5 - p. 1398-1398 , 2024

Link: https://doi.org/10.1158/..

2

Discovery of recessive effect of human polymerase δ proofre..:

Andrianova, Maria A. ; Seplyarskiy, Vladimir B. ; Terradas, Mariona...
European Journal of Human Genetics. 32 (2024) 7 - p. 837-845 , 2024

Link: https://doi.org/10.1038/..

3

Exploring Co-occurring POLE Exonuclease and Non-exonuclease..:

Shah, Shreya M. ; Demidova, Elena V. ; Ringenbach, Salena...
Cancer Research Communications. 4 (2024) 1 - p. 213-225 , 2024

Link: https://doi.org/10.1158/..

4

Gene-specific ACMG/AMP classification criteria for germline..:

Spier, Isabel ; Yin, Xiaoyu ; Richardson, Marcy...
Genetics in Medicine. 26 (2024) 2 - p. 100992 , 2024

Link: https://doi.org/10.1016/..

5

Position statement of the International Society for Gastroi..:

Valle, Laura ; Katz, Lior H ; Latchford, Andrew...
Journal of Medical Genetics. 60 (2023) 11 - p. 1035-1043 , 2023

Link: https://doi.org/10.1136/..

6

Wnt genes in colonic polyposis predisposition:

Quintana, Isabel ; Terradas, Mariona ; Mur, Pilar...
Genes & Diseases. 10 (2023) 3 - p. 753-757 , 2023

Link: https://doi.org/10.1016/..

7

Recommendations for the classification of germline variants..:

Mur, Pilar ; Viana-Errasti, Julen ; García-Mulero, Sandra...
Genome Medicine. 15 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

8

Characterization of POLE c.1373A > T p.(Tyr458Phe), causing..:

Rocque, Mariève J. ; Leipart, Vilde ; Kumar Singh, Ashish...
Molecular Genetics and Genomics. 298 (2023) 3 - p. 555-566 , 2023

Link: https://doi.org/10.1007/..

9

Potential Involvement of NSD1, KRT24 and ACACA in the Genet..:

Quintana, Isabel ; Mur, Pilar ; Terradas, Mariona...
Cancers. 14 (2022) 3 - p. 699 , 2022

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

10

Non-Lynch Familial and Early-Onset Colorectal Cancer Explai..:

Mur, Pilar ; Bonifaci, Nuria ; Díez-Villanueva, Anna...
Cancers. 13 (2021) 15 - p. 3857 , 2021

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

11

Solving the enigma of POLD1 p.V295M as a potential cause of..:

Mur, Pilar ; Magraner-Pardo, Lorena ; García-Mulero, Sandra...
European Journal of Human Genetics. 30 (2021) 4 - p. 485-489 , 2021

Link: https://doi.org/10.1038/..

12

The Inherited and Familial Component of Early-Onset Colorec..:

Daca Alvarez, Maria ; Quintana, Isabel ; Terradas, Mariona...
Cells. 10 (2021) 3 - p. 710 , 2021

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

13

Expanding the phenotype of cerebellar‐facial‐dental syndrom..:

Valenzuela, Irene ; Codina, Marta ; Fernández‐Álvarez, Paula...
American Journal of Medical Genetics Part A. 182 (2020) 11 - p. 2742-2745 , 2020

Link: https://doi.org/10.1002/..

14

Role of POLE and POLD1 in familial cancer:

Mur, Pilar ; García-Mulero, Sandra ; del Valle, Jesús...
Genetics in Medicine. 22 (2020) 12 - p. 2089-2100 , 2020

Link: https://doi.org/10.1038/..

15

NTHL1 biallelic mutations seldom cause colorectal cancer, s..:

Belhadj, Sami ; Quintana, Isabel ; Mur, Pilar...
Scientific Reports. 9 (2019) 1 - p. , 2019

Link: https://doi.org/10.1038/..