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The Journal of Pathology
|
June 18, 2022
Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants
Elena Bueno-Martínez, Lara Sanoguera-Miralles, Alberto Valenzuela-Palomo, et al.
Cancer Research
|
December 14, 2021
Functional Analysis Identifies Damaging CHEK2 Missense Variants Associated with Increased Cancer Risk
Rick A C M Boonen, Wouter W Wiegant, Nandi Celosse, et al.
BMC Cancer
|
July 25, 2008
A family history of breast cancer will not predict female early onset breast cancer in a population-based setting
Geertruida H de Bock, Catharina E Jacobi, Caroline Seynaeve, et al.
Clinical Chemistry
|
September 19, 2023
Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants
Lara Sanoguera-Miralles, Alberto Valenzuela-Palomo, Elena Bueno-Martínez, et al.
Breast Cancer Research and Treatment
|
February 3, 2012
MUTYH gene variants and breast cancer in a Dutch case–control study
Astrid A Out, Marijke Wasielewski, Petra E A Huijts, et al.
Human Molecular Genetics
|
July 13, 2016
Parent-of-origin tumourigenesis is mediated by an essential imprinted modifier in SDHD-linked paragangliomas: SLC22A18 and CDKN1C are candidate tumour modifiers
Attje S Hoekstra, Ruben D Addie, Cor Ras, et al.
Cancers
|
December 18, 2020
Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the <i>RAD51C</i> Gene
Lara Sanoguera-Miralles, Alberto Valenzuela-Palomo, Elena Bueno-Martínez, et al.
European Journal of Human Genetics : EJHG
|
February 28, 2018
The association between cancer family history and ovarian cancer risk in BRCA1/2 mutation carriers: can it be explained by the mutation position?
Natalia Teixeira, Annemieke van der Hout, Jan C Oosterwijk, et al.
Familial Cancer
|
March 3, 2007
Founder mutations in early-onset, familial and bilateral breast cancer patients from Russia
Anna P Sokolenko, Maxim E Rozanov, Natalia V Mitiushkina, et al.
The Journal of Pathology
|
November 30, 2021
Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants
Alberto Valenzuela-Palomo, Elena Bueno-Martínez, Lara Sanoguera-Miralles, et al.
Page
of 29
Search research articles
Search
Showing results (81-90 of 282) with videos related to
Sort By:
Page
of 29
The Journal of Pathology
|
June 18, 2022
Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants
Elena Bueno-Martínez, Lara Sanoguera-Miralles, Alberto Valenzuela-Palomo, et al.
Cancer Research
|
December 14, 2021
Functional Analysis Identifies Damaging CHEK2 Missense Variants Associated with Increased Cancer Risk
Rick A C M Boonen, Wouter W Wiegant, Nandi Celosse, et al.
BMC Cancer
|
July 25, 2008
A family history of breast cancer will not predict female early onset breast cancer in a population-based setting
Geertruida H de Bock, Catharina E Jacobi, Caroline Seynaeve, et al.
Clinical Chemistry
|
September 19, 2023
Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants
Lara Sanoguera-Miralles, Alberto Valenzuela-Palomo, Elena Bueno-Martínez, et al.
Breast Cancer Research and Treatment
|
February 3, 2012
MUTYH gene variants and breast cancer in a Dutch case–control study
Astrid A Out, Marijke Wasielewski, Petra E A Huijts, et al.
Human Molecular Genetics
|
July 13, 2016
Parent-of-origin tumourigenesis is mediated by an essential imprinted modifier in SDHD-linked paragangliomas: SLC22A18 and CDKN1C are candidate tumour modifiers
Attje S Hoekstra, Ruben D Addie, Cor Ras, et al.
Cancers
|
December 18, 2020
Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the <i>RAD51C</i> Gene
Lara Sanoguera-Miralles, Alberto Valenzuela-Palomo, Elena Bueno-Martínez, et al.
European Journal of Human Genetics : EJHG
|
February 28, 2018
The association between cancer family history and ovarian cancer risk in BRCA1/2 mutation carriers: can it be explained by the mutation position?
Natalia Teixeira, Annemieke van der Hout, Jan C Oosterwijk, et al.
Familial Cancer
|
March 3, 2007
Founder mutations in early-onset, familial and bilateral breast cancer patients from Russia
Anna P Sokolenko, Maxim E Rozanov, Natalia V Mitiushkina, et al.
The Journal of Pathology
|
November 30, 2021
Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants
Alberto Valenzuela-Palomo, Elena Bueno-Martínez, Lara Sanoguera-Miralles, et al.
Page
of 29