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1 . Academic Journal
Lack of evidence for germline WWP1 pathogenic variants in gastrointestinal polyposis and other phenotypes suggestive of PTEN-hamartoma-tumor syndrome
저자
by
Noemi Gonzalez-Abuin
;
Tirso Pons
;
Teresa Fuster
;
Isabel Quintana
;
Mariona Terradas
, et al.
소스
Genes and Diseases, Vol 11, Iss 2, Pp 524-527 (2024)
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7 . Academic Journal
Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1
저자
by
Pilar Mur
;
Julen Viana-Errasti
;
Sandra García-Mulero
;
Lorena Magraner-Pardo
;
Inés G. Muñoz
, et al.
소스
Genome Medicine, Vol 15, Iss 1, Pp 1-18 (2023)
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7 . Academic Journal
Wnt genes in colonic polyposis predisposition
저자
by
Isabel Quintana
;
Mariona Terradas
;
Pilar Mur
;
Iris B.A.W. te Paske
;
Sophia Peters
, et al.
소스
Genes and Diseases, Vol 10, Iss 3, Pp 753-757 (2023)
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7 . Academic Journal
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
저자
by
Adam Jackson
;
Sheng-Jia Lin
;
Elizabeth A. Jones
;
Kate E. Chandler
;
David Orr
, et al.
소스
HGG Advances, Vol 4, Iss 2, Pp 100186- (2023)
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7 . Academic Journal
A genetic variant in telomerase reverse transcriptase (TERT) modifies cancer risk in Lynch syndrome patients harbouring pathogenic MSH2 variants
저자
by
Mariann Unhjem Wiik
;
Tiffany-Jane Evans
;
Sami Belhadj
;
Katherine A. Bolton
;
Dagmara Dymerska
, et al.
소스
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
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7 . Academic Journal
Potential Involvement of NSD1, KRT24 and ACACA in the Genetic Predisposition to Colorectal Cancer
저자
by
Isabel Quintana
;
Pilar Mur
;
Mariona Terradas
;
Sandra García-Mulero
;
Gemma Aiza
, et al.
소스
Cancers, Vol 14, Iss 699, p 699 (2022)
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7 . Academic Journal
Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis
저자
by
Pilar Mur
;
Richarda M. De Voer
;
Rubén Olivera-Salguero
;
Sandra Rodríguez-Perales
;
Tirso Pons
, et al.
소스
Molecular Cancer, Vol 17, Iss 1, Pp 1-6 (2018)
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7 . Academic Journal
Non-Lynch Familial and Early-Onset Colorectal Cancer Explained by Accumulation of Low-Risk Genetic Variants
저자
by
Pilar Mur
;
Nuria Bonifaci
;
Anna Díez-Villanueva
;
Elisabet Munté
;
Maria Henar Alonso
, et al.
소스
Cancers, Vol 13, Iss 15, p 3857 (2021)
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7 . Academic Journal
The Inherited and Familial Component of Early-Onset Colorectal Cancer
저자
by
Maria Daca Alvarez
;
Isabel Quintana
;
Mariona Terradas
;
Pilar Mur
;
Francesc Balaguer
, et al.
소스
Cells, Vol 10, Iss 3, p 710 (2021)
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7 . Academic Journal
Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals
저자
by
Estela Dámaso
;
Maribel González-Acosta
;
Gardenia Vargas-Parra
;
Matilde Navarro
;
Judith Balmaña
, et al.
소스
Cancers, Vol 12, Iss 7, p 1799 (2020)
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