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Alexander Hoischen

Showing results (121-130 of 249) with videos related to

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Human Mutation|October 22, 2016
Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian CarcinomasRobbert D A Weren, Arjen R Mensenkamp, Michiel Simons, et al.
European Journal of Human Genetics : EJHG|February 24, 2019
Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathyIlse Luyckx, Gretchen MacCarrick, Marlies Kempers, et al.
European Journal of Human Genetics : EJHG|June 2, 2021
Solving patients with rare diseases through programmatic reanalysis of genome-phenome dataLeslie Matalonga, Carles Hernández-Ferrer, Davide Piscia, et al.
Clinical Genetics|October 21, 2021
The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 geneServi J C Stevens, Constance T R M Stumpel, Karin E M Diderich, et al.
Brain : a Journal of Neurology|March 20, 2012
KIAA1797/FOCAD encodes a novel focal adhesion protein with tumour suppressor function in gliomasAntje Brockschmidt, Detlef Trost, Heike Peterziel, et al.
Scientific Reports|September 12, 2015
Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal CancerRicharda M de Voer, Marc-Manuel Hahn, Arjen R Mensenkamp, et al.
Oncotarget|April 28, 2017
A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patientsJunxiao Zhang, Xiaoyan Wang, Richarda M de Voer, et al.
Iscience|October 31, 2022
Human variation in population-wide gene expression data predicts gene perturbation phenotypeLorenzo Bonaguro, Jonas Schulte-Schrepping, Caterina Carraro, et al.
European Journal of Human Genetics : EJHG|August 16, 2021
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome dataLeslie Matalonga, Carles Hernández-Ferrer, Davide Piscia, et al.
Nature Communications|March 8, 2025
Genome-wide profiling of highly similar paralogous genes using HiFi sequencingXiao Chen, Daniel Baker, Egor Dolzhenko, et al.
Pageof 25

Showing results (121-130 of 249) with videos related to

Sort By:
Pageof 25
Human Mutation|October 22, 2016
Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian CarcinomasRobbert D A Weren, Arjen R Mensenkamp, Michiel Simons, et al.
European Journal of Human Genetics : EJHG|February 24, 2019
Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathyIlse Luyckx, Gretchen MacCarrick, Marlies Kempers, et al.
European Journal of Human Genetics : EJHG|June 2, 2021
Solving patients with rare diseases through programmatic reanalysis of genome-phenome dataLeslie Matalonga, Carles Hernández-Ferrer, Davide Piscia, et al.
Clinical Genetics|October 21, 2021
The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 geneServi J C Stevens, Constance T R M Stumpel, Karin E M Diderich, et al.
Brain : a Journal of Neurology|March 20, 2012
KIAA1797/FOCAD encodes a novel focal adhesion protein with tumour suppressor function in gliomasAntje Brockschmidt, Detlef Trost, Heike Peterziel, et al.
Scientific Reports|September 12, 2015
Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal CancerRicharda M de Voer, Marc-Manuel Hahn, Arjen R Mensenkamp, et al.
Oncotarget|April 28, 2017
A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patientsJunxiao Zhang, Xiaoyan Wang, Richarda M de Voer, et al.
Iscience|October 31, 2022
Human variation in population-wide gene expression data predicts gene perturbation phenotypeLorenzo Bonaguro, Jonas Schulte-Schrepping, Caterina Carraro, et al.
European Journal of Human Genetics : EJHG|August 16, 2021
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome dataLeslie Matalonga, Carles Hernández-Ferrer, Davide Piscia, et al.
Nature Communications|March 8, 2025
Genome-wide profiling of highly similar paralogous genes using HiFi sequencingXiao Chen, Daniel Baker, Egor Dolzhenko, et al.
Pageof 25