Emma Borràs

Publication Activity (10 Years)

Years Active: 2024-2024
Publications (10 Years): 8

Top Topics

Endometrial Cancer

Intellectual Disability

Top Venues

European journal of human genetics : EJHG

Journal of medical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Maria A Andrianova, Vladimir B Seplyarskiy, Mariona Terradas, Ana Beatriz Sanchez-Heras, Pilar Mur, José Luís Soto, Gemma Aiza, Emma Borràs, Fyodor A Kondrashov, Alexey S Kondrashov, Georgii A Bazykin, Laura Valle
Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells. European journal of human genetics : EJHG 32 (7) (2024)
Vicken Y Totten, Gisela Teixidó, Fermina Lopez-Grondona, Paula Fernandez-Alvarez, Amaia Lasa-Aranzasti, Patricia Muñoz-Cabello, Rika Kosaki, Eduardo F Tizzano, Wendy Dewals, Emma Borràs, Elena Gonzalez Cañas, Berta Almoguera, Bart L Loeys, Maria Irene Valenzuela Palafoll
Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome. Journal of medical genetics 61 (9) (2024)
Vicken Y Totten, Gisela Teixidó, Fermina Lopez-Grondona, Paula Fernandez-Alvarez, Amaia Lasa-Aranzasti, Patricia Muñoz-Cabello, Rika Kosaki, Eduardo F Tizzano, Wendy Dewals, Emma Borràs, Elena Gonzalez Cañas, Berta Almoguera, Bart L Loeys, Maria Irene Valenzuela Palafoll
Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome. Journal of medical genetics 61 (9) (2024)
Maria A Andrianova, Vladimir B Seplyarskiy, Mariona Terradas, Ana Beatriz Sanchez-Heras, Pilar Mur, José Luís Soto, Gemma Aiza, Emma Borràs, Fyodor A Kondrashov, Alexey S Kondrashov, Georgii A Bazykin, Laura Valle
Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells. European journal of human genetics : EJHG 32 (7) (2024)
Maria A Andrianova, Vladimir B Seplyarskiy, Mariona Terradas, Ana Beatriz Sanchez-Heras, Pilar Mur, José Luís Soto, Gemma Aiza, Emma Borràs, Fyodor A Kondrashov, Alexey S Kondrashov, Georgii A Bazykin, Laura Valle
Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells. European journal of human genetics : EJHG 32 (7) (2024)
Maria A Andrianova, Vladimir B Seplyarskiy, Mariona Terradas, Ana Beatriz Sanchez-Heras, Pilar Mur, José Luís Soto, Gemma Aiza, Emma Borràs, Fyodor A Kondrashov, Alexey S Kondrashov, Georgii A Bazykin, Laura Valle
Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells. European journal of human genetics : EJHG 32 (7) (2024)
Maria A Andrianova, Vladimir B Seplyarskiy, Mariona Terradas, Ana Beatriz Sanchez-Heras, Pilar Mur, José Luís Soto, Gemma Aiza, Emma Borràs, Fyodor A Kondrashov, Alexey S Kondrashov, Georgii A Bazykin, Laura Valle
Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells. European journal of human genetics : EJHG (2024)
Vicken Y Totten, Gisela Teixidó, Fermina Lopez-Grondona, Paula Fernandez-Alvarez, Amaia Lasa-Aranzasti, Patricia Muñoz-Cabello, Rika Kosaki, Eduardo F Tizzano, Wendy Dewals, Emma Borràs, Elena Gonzalez Cañas, Berta Almoguera, Bart L Loeys, Maria Irene Valenzuela Palafoll
Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome. Journal of medical genetics (2024)