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Marc Sturm

Showing results (81-90 of 106) with videos related to

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Genome Medicine|May 2, 2019
Multi-omics discovery of exome-derived neoantigens in hepatocellular carcinomaMarkus W Löffler, Christopher Mohr, Leon Bichmann, et al.
Journal of Hepatology|July 12, 2016
Personalized peptide vaccine-induced immune response associated with long-term survival of a metastatic cholangiocarcinoma patientMarkus W Löffler, P Anoop Chandran, Karoline Laske, et al.
Journal of Hepatology|November 20, 2016
Erratum to "Personalized peptide vaccine-induced immune response associated with long-term survival of a metastatic cholangiocarcinoma patient"Markus W Löffler, P Anoop Chandran, Karoline Laske, et al.
Journal of Medical Genetics|September 21, 2023
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseasesNicole Weisschuh, Pascale Mazzola, Theresia Zuleger, et al.
European Journal of Human Genetics : EJHG|May 16, 2022
Recommendations for whole genome sequencing in diagnostics for rare diseasesErika Souche, Sergi Beltran, Erwin Brosens, et al.
Nature Communications|June 7, 2024
Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic targetLucas Caldi Gomes, Sonja Hänzelmann, Fabian Hausmann, et al.
Neurology|January 26, 2021
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 DiseaseAndreas Traschütz, Andrea Cortese, Selina Reich, et al.
American Journal of Human Genetics|January 17, 2025
Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsyRebecca Buchert, Martin D Burkhalter, Chrisovalantou Huridou, et al.
American Journal of Human Genetics|December 5, 2017
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 DeletionsTiong Yang Tan, Claudia Gonzaga-Jauregui, Elizabeth J Bhoj, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2019
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathyRené G Feichtinger, Bettina E Mucha, Holger Hengel, et al.
Pageof 11

Showing results (81-90 of 106) with videos related to

Sort By:
Pageof 11
Genome Medicine|May 2, 2019
Multi-omics discovery of exome-derived neoantigens in hepatocellular carcinomaMarkus W Löffler, Christopher Mohr, Leon Bichmann, et al.
Journal of Hepatology|July 12, 2016
Personalized peptide vaccine-induced immune response associated with long-term survival of a metastatic cholangiocarcinoma patientMarkus W Löffler, P Anoop Chandran, Karoline Laske, et al.
Journal of Hepatology|November 20, 2016
Erratum to "Personalized peptide vaccine-induced immune response associated with long-term survival of a metastatic cholangiocarcinoma patient"Markus W Löffler, P Anoop Chandran, Karoline Laske, et al.
Journal of Medical Genetics|September 21, 2023
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseasesNicole Weisschuh, Pascale Mazzola, Theresia Zuleger, et al.
European Journal of Human Genetics : EJHG|May 16, 2022
Recommendations for whole genome sequencing in diagnostics for rare diseasesErika Souche, Sergi Beltran, Erwin Brosens, et al.
Nature Communications|June 7, 2024
Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic targetLucas Caldi Gomes, Sonja Hänzelmann, Fabian Hausmann, et al.
Neurology|January 26, 2021
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 DiseaseAndreas Traschütz, Andrea Cortese, Selina Reich, et al.
American Journal of Human Genetics|January 17, 2025
Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsyRebecca Buchert, Martin D Burkhalter, Chrisovalantou Huridou, et al.
American Journal of Human Genetics|December 5, 2017
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 DeletionsTiong Yang Tan, Claudia Gonzaga-Jauregui, Elizabeth J Bhoj, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2019
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathyRené G Feichtinger, Bettina E Mucha, Holger Hengel, et al.
Pageof 11