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Esther Pohl

Showing results (11-20 of 22) with videos related to

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Human Genetics|May 25, 2011
A mutation screen in patients with Kabuki syndromeYun Li, Nina Bögershausen, Yasemin Alanay, et al.
International Journal of Cancer|November 27, 2018
The GPRC5A frameshift variant c.183del is not associated with increased breast cancer risk in BRCA1 mutation carriersKristina Klaschik, Jan Hauke, Guido Neidhardt, et al.
JAMA Oncology|March 13, 2020
Association of Germline Variant Status With Therapy Response in High-risk Early-Stage Breast Cancer: A Secondary Analysis of the GeparOcto Randomized Clinical TrialEsther Pohl-Rescigno, Jan Hauke, Sibylle Loibl, et al.
The Journal of Clinical Investigation|August 18, 2015
RAP1-mediated MEK/ERK pathway defects in Kabuki syndromeNina Bögershausen, I-Chun Tsai, Esther Pohl, et al.
Breast Cancer Research : BCR|May 1, 2019
Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancerNana Weber-Lassalle, Julika Borde, Konstantin Weber-Lassalle, et al.
Nature Genetics|December 7, 2010
CEP152 is a genome maintenance protein disrupted in Seckel syndromeErsan Kalay, Gökhan Yigit, Yakup Aslan, et al.
Journal of the National Cancer Institute|December 29, 2020
Performance of Breast Cancer Polygenic Risk Scores in 760 Female CHEK2 Germline Mutation CarriersJulika Borde, Corinna Ernst, Barbara Wappenschmidt, et al.
Cancer Medicine|March 10, 2018
Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian CancerJan Hauke, Judit Horvath, Eva Groß, et al.
Human Molecular Genetics|August 3, 2013
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodelingDagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, et al.
Scientific Reports|August 31, 2019
Two truncating variants in FANCC and breast cancer riskThilo Dörk, Paolo Peterlongo, Arto Mannermaa, et al.
Pageof 3

Showing results (11-20 of 22) with videos related to

Sort By:
Pageof 3
Human Genetics|May 25, 2011
A mutation screen in patients with Kabuki syndromeYun Li, Nina Bögershausen, Yasemin Alanay, et al.
International Journal of Cancer|November 27, 2018
The GPRC5A frameshift variant c.183del is not associated with increased breast cancer risk in BRCA1 mutation carriersKristina Klaschik, Jan Hauke, Guido Neidhardt, et al.
JAMA Oncology|March 13, 2020
Association of Germline Variant Status With Therapy Response in High-risk Early-Stage Breast Cancer: A Secondary Analysis of the GeparOcto Randomized Clinical TrialEsther Pohl-Rescigno, Jan Hauke, Sibylle Loibl, et al.
The Journal of Clinical Investigation|August 18, 2015
RAP1-mediated MEK/ERK pathway defects in Kabuki syndromeNina Bögershausen, I-Chun Tsai, Esther Pohl, et al.
Breast Cancer Research : BCR|May 1, 2019
Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancerNana Weber-Lassalle, Julika Borde, Konstantin Weber-Lassalle, et al.
Nature Genetics|December 7, 2010
CEP152 is a genome maintenance protein disrupted in Seckel syndromeErsan Kalay, Gökhan Yigit, Yakup Aslan, et al.
Journal of the National Cancer Institute|December 29, 2020
Performance of Breast Cancer Polygenic Risk Scores in 760 Female CHEK2 Germline Mutation CarriersJulika Borde, Corinna Ernst, Barbara Wappenschmidt, et al.
Cancer Medicine|March 10, 2018
Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian CancerJan Hauke, Judit Horvath, Eva Groß, et al.
Human Molecular Genetics|August 3, 2013
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodelingDagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, et al.
Scientific Reports|August 31, 2019
Two truncating variants in FANCC and breast cancer riskThilo Dörk, Paolo Peterlongo, Arto Mannermaa, et al.
Pageof 3