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Max Schubach

Showing results (21-30 of 35) with videos related to

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Nature Protocols|November 13, 2015
Next-generation diagnostics and disease-gene discovery with the ExomiserDamian Smedley, Julius O B Jacobsen, Marten Jäger, et al.
Scientific Reports|October 4, 2018
Multisite de novo mutations in human offspring after paternal exposure to ionizing radiationManuel Holtgrewe, Alexej Knaus, Gabriele Hildebrand, et al.
European Journal of Human Genetics : EJHG|July 9, 2015
Loss-of-function variants in HIVEP2 are a cause of intellectual disabilitySiddharth Srivastava, Hartmut Engels, Ina Schanze, et al.
The Journal of Clinical Endocrinology and Metabolism|March 11, 2022
Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass DisordersRalf Oheim, Elena Tsourdi, Lothar Seefried, et al.
Nature|January 15, 2025
Massively parallel characterization of transcriptional regulatory elementsVikram Agarwal, Fumitaka Inoue, Max Schubach, et al.
American Journal of Human Genetics|August 30, 2016
A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian DiseaseDamian Smedley, Max Schubach, Julius O B Jacobsen, et al.
Nature Protocols|July 10, 2020
lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elementsM Grace Gordon, Fumitaka Inoue, Beth Martin, et al.
Human Mutation|January 29, 2016
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPFIsabel Filges, Elisabeth Bruder, Kristin Brandal, et al.
Human Mutation|May 21, 2019
Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assayDustin Shigaki, Orit Adato, Aashish N Adhikari, et al.
Plos One|January 15, 2016
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation SequencingNicole Weisschuh, Anja K Mayer, Tim M Strom, et al.
Pageof 4

Showing results (21-30 of 35) with videos related to

Sort By:
Pageof 4
Nature Protocols|November 13, 2015
Next-generation diagnostics and disease-gene discovery with the ExomiserDamian Smedley, Julius O B Jacobsen, Marten Jäger, et al.
Scientific Reports|October 4, 2018
Multisite de novo mutations in human offspring after paternal exposure to ionizing radiationManuel Holtgrewe, Alexej Knaus, Gabriele Hildebrand, et al.
European Journal of Human Genetics : EJHG|July 9, 2015
Loss-of-function variants in HIVEP2 are a cause of intellectual disabilitySiddharth Srivastava, Hartmut Engels, Ina Schanze, et al.
The Journal of Clinical Endocrinology and Metabolism|March 11, 2022
Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass DisordersRalf Oheim, Elena Tsourdi, Lothar Seefried, et al.
Nature|January 15, 2025
Massively parallel characterization of transcriptional regulatory elementsVikram Agarwal, Fumitaka Inoue, Max Schubach, et al.
American Journal of Human Genetics|August 30, 2016
A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian DiseaseDamian Smedley, Max Schubach, Julius O B Jacobsen, et al.
Nature Protocols|July 10, 2020
lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elementsM Grace Gordon, Fumitaka Inoue, Beth Martin, et al.
Human Mutation|January 29, 2016
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPFIsabel Filges, Elisabeth Bruder, Kristin Brandal, et al.
Human Mutation|May 21, 2019
Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assayDustin Shigaki, Orit Adato, Aashish N Adhikari, et al.
Plos One|January 15, 2016
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation SequencingNicole Weisschuh, Anja K Mayer, Tim M Strom, et al.
Pageof 4