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Peter Devilee

Showing results (21-30 of 282) with videos related to

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Human Mutation|April 4, 2003
IVS10-6T>G, an ancient ATM germline mutation linked with breast cancerAnnegien Broeks, Jos H M Urbanus, Peter de Knijff, et al.
Breast Cancer Research and Treatment|February 12, 2009
A 7 Mb region within 11q13 may contain a high penetrance gene for breast cancerJuan Manuel Rosa-Rosa, Guillermo Pita, Anna González-Neira, et al.
Frontiers in Genetics|October 4, 2023
Multi-gene panel testing and association analysis in Cypriot breast cancer cases and controlsMaria Zanti, Maria A Loizidou, Denise G O'Mahony, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 25, 2020
Correction: Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2Romy L S Mesman, Fabienne M G R Calléja, Miguel de la Hoya, et al.
European Journal of Human Genetics : EJHG|April 11, 2022
Assessment of psychosocial difficulties by genetic clinicians and distress in women at high risk of breast cancer: a prospective studyAnne Brédart, Jean-Luc Kop, Anja Tüchler, et al.
Molecular Genetics & Genomic Medicine|August 7, 2015
Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analysesHeleen M van der Klift, Anne M L Jansen, Niki van der Steenstraten, et al.
BMJ Open|September 26, 2019
Psychosocial problems in women attending French, German and Spanish genetics clinics before and after targeted or multigene testing results: an observational prospective studyAnne Brédart, Jean-Luc Kop, Julia Dick, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 14, 2020
Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2Romy L S Mesman, Fabienne M G R Calléja, Miguel de la Hoya, et al.
Human Mutation|May 29, 2016
Functional Analysis of Missense Variants in the Putative Breast Cancer Susceptibility Gene XRCC2Florentine S Hilbers, Martijn S Luijsterburg, Wouter W Wiegant, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 11, 2018
The functional impact of variants of uncertain significance in BRCA2Romy L S Mesman, Fabienne M G R Calléja, Giel Hendriks, et al.
Pageof 29

Showing results (21-30 of 282) with videos related to

Sort By:
Pageof 29
Human Mutation|April 4, 2003
IVS10-6T>G, an ancient ATM germline mutation linked with breast cancerAnnegien Broeks, Jos H M Urbanus, Peter de Knijff, et al.
Breast Cancer Research and Treatment|February 12, 2009
A 7 Mb region within 11q13 may contain a high penetrance gene for breast cancerJuan Manuel Rosa-Rosa, Guillermo Pita, Anna González-Neira, et al.
Frontiers in Genetics|October 4, 2023
Multi-gene panel testing and association analysis in Cypriot breast cancer cases and controlsMaria Zanti, Maria A Loizidou, Denise G O'Mahony, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 25, 2020
Correction: Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2Romy L S Mesman, Fabienne M G R Calléja, Miguel de la Hoya, et al.
European Journal of Human Genetics : EJHG|April 11, 2022
Assessment of psychosocial difficulties by genetic clinicians and distress in women at high risk of breast cancer: a prospective studyAnne Brédart, Jean-Luc Kop, Anja Tüchler, et al.
Molecular Genetics & Genomic Medicine|August 7, 2015
Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analysesHeleen M van der Klift, Anne M L Jansen, Niki van der Steenstraten, et al.
BMJ Open|September 26, 2019
Psychosocial problems in women attending French, German and Spanish genetics clinics before and after targeted or multigene testing results: an observational prospective studyAnne Brédart, Jean-Luc Kop, Julia Dick, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 14, 2020
Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2Romy L S Mesman, Fabienne M G R Calléja, Miguel de la Hoya, et al.
Human Mutation|May 29, 2016
Functional Analysis of Missense Variants in the Putative Breast Cancer Susceptibility Gene XRCC2Florentine S Hilbers, Martijn S Luijsterburg, Wouter W Wiegant, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 11, 2018
The functional impact of variants of uncertain significance in BRCA2Romy L S Mesman, Fabienne M G R Calléja, Giel Hendriks, et al.
Pageof 29