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Showing results (101-110 of 226) with videos related to

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Human Mutation|November 10, 2020
Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locusAboulfazl Rad, Thore Schade-Mann, Philipp Gamerdinger, et al.
Vaccines|November 11, 2022
Adjuvant Treatment for Breast Cancer Patients Using Individualized Neoantigen Peptide Vaccination-A Retrospective ObservationHenning Zelba, Alex McQueeney, Armin Rabsteyn, et al.
The Journal of Pediatrics|September 20, 2016
Infantile Cirrhosis, Growth Impairment, and Neurodevelopmental Anomalies Associated with Deficiency of PPP1R15BSaeed Mohammad, Lynne A Wolfe, Petra Stöbe, et al.
Human Mutation|June 13, 2020
Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year periodNicole Weisschuh, Carolin D Obermaier, Florian Battke, et al.
Frontiers in Immunology|May 27, 2021
Case Report: Hemophagocytic Lymphohistiocytosis and Non-Tuberculous Mycobacteriosis Caused by a Novel <i>GATA2</i> VariantThomas Mika, Deepak Vangala, Matthias Eckhardt, et al.
JIMD Reports|December 21, 2018
Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?Imre F Schene, Christoph G Korenke, Hidde H Huidekoper, et al.
Journal of Medical Genetics|June 4, 2020
TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currentsJulien H Park, Jiraporn Ousingsawat, Inês Cabrita, et al.
Human Molecular Genetics|November 28, 2013
Functional interaction of Parkinson's disease-associated LRRK2 with members of the dynamin GTPase superfamilyKlodjan Stafa, Elpida Tsika, Roger Moser, et al.
American Journal of Medical Genetics. Part A|March 23, 2017
Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndromeThushiha Logeswaran, Christoph Friedburg, Karoline Hofmann, et al.
Frontiers in Immunology|November 3, 2023
Case Report: Targeting of individual somatic tumor mutations by multipeptide vaccination tailored for HLA class I and II presentation induces strong CD4 and CD8 T-cell responses in a patient with metastatic castration sensitive prostate cancerHenning Zelba, Armin Rabsteyn, Oliver Bartsch, et al.
Pageof 23

Showing results (101-110 of 226) with videos related to

Sort By:
Pageof 23
Human Mutation|November 10, 2020
Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locusAboulfazl Rad, Thore Schade-Mann, Philipp Gamerdinger, et al.
Vaccines|November 11, 2022
Adjuvant Treatment for Breast Cancer Patients Using Individualized Neoantigen Peptide Vaccination-A Retrospective ObservationHenning Zelba, Alex McQueeney, Armin Rabsteyn, et al.
The Journal of Pediatrics|September 20, 2016
Infantile Cirrhosis, Growth Impairment, and Neurodevelopmental Anomalies Associated with Deficiency of PPP1R15BSaeed Mohammad, Lynne A Wolfe, Petra Stöbe, et al.
Human Mutation|June 13, 2020
Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year periodNicole Weisschuh, Carolin D Obermaier, Florian Battke, et al.
Frontiers in Immunology|May 27, 2021
Case Report: Hemophagocytic Lymphohistiocytosis and Non-Tuberculous Mycobacteriosis Caused by a Novel <i>GATA2</i> VariantThomas Mika, Deepak Vangala, Matthias Eckhardt, et al.
JIMD Reports|December 21, 2018
Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?Imre F Schene, Christoph G Korenke, Hidde H Huidekoper, et al.
Journal of Medical Genetics|June 4, 2020
TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currentsJulien H Park, Jiraporn Ousingsawat, Inês Cabrita, et al.
Human Molecular Genetics|November 28, 2013
Functional interaction of Parkinson's disease-associated LRRK2 with members of the dynamin GTPase superfamilyKlodjan Stafa, Elpida Tsika, Roger Moser, et al.
American Journal of Medical Genetics. Part A|March 23, 2017
Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndromeThushiha Logeswaran, Christoph Friedburg, Karoline Hofmann, et al.
Frontiers in Immunology|November 3, 2023
Case Report: Targeting of individual somatic tumor mutations by multipeptide vaccination tailored for HLA class I and II presentation induces strong CD4 and CD8 T-cell responses in a patient with metastatic castration sensitive prostate cancerHenning Zelba, Armin Rabsteyn, Oliver Bartsch, et al.
Pageof 23