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Showing results (41-50 of 226) with videos related to

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Klinische Monatsblatter Fur Augenheilkunde|December 9, 2022
Specific Changes in OCT Imaging Associated with a Novel Mutation of the RS1 Gene in X-Linked RetinoschisisAndrea Magdalena Waibel, Johanna Mirjam Stoye, Pablo Villavicencio-Lorini, et al.
The Journal of Molecular Diagnostics : JMD|October 21, 2023
Analytical Performance Evaluation of a 523-Gene Circulating Tumor DNA Assay for Next-Generation Sequencing-Based Comprehensive Tumor Profiling in Liquid Biopsy SamplesJohannes Harter, Eleonora Buth, Janina Johaenning, et al.
Frontiers in Genetics|June 22, 2023
The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in <i>CDC42</i>: a case reportAleksandra Szczawińska-Popłonyk, Natalia Popłonyk, Magdalena Badura-Stronka, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|August 6, 2021
Hypertransaminasemia and liver fibrosis associated with haptoglobin retention and anhaptoglobinemia in a paediatric patientSophia Gunzer, Andreas Kraus, Inka Buchroth, et al.
Journal of Neurology|May 11, 2015
Clinical variability in ataxia-telangiectasiaEbba Lohmann, Stefanie Krüger, Ann-Kathrin Hauser, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|April 24, 2014
Unusual variability of PRRT2 linked phenotypes within a familyFrieder Brueckner, Bernhard Kohl, Burkhard Puest, et al.
Tremor and Other Hyperkinetic Movements (New York, N.Y.)|October 31, 2017
A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of <i>WDR45</i>Andreas Hermann, Hagen H Kitzler, Tobias Pollack, et al.
Cancers|May 2, 2020
Are Pathogenic Germline Variants in Metastatic Melanoma Associated with Resistance to Combined Immunotherapy?Teresa Amaral, Martin Schulze, Tobias Sinnberg, et al.
Investigative Ophthalmology & Visual Science|July 20, 2018
Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German CohortDitta Zobor, Gergely Zobor, Stephanie Hipp, et al.
Molecular Syndromology|February 9, 2019
Could Dissimilar Phenotypic Effects of <i>ACTB</i> Missense Mutations Reflect the Actin Conformational Change? Two Novel Mutations and Literature ReviewAnna Sandestig, Anna Green, Jon Jonasson, et al.
Pageof 23

Showing results (41-50 of 226) with videos related to

Sort By:
Pageof 23
Klinische Monatsblatter Fur Augenheilkunde|December 9, 2022
Specific Changes in OCT Imaging Associated with a Novel Mutation of the RS1 Gene in X-Linked RetinoschisisAndrea Magdalena Waibel, Johanna Mirjam Stoye, Pablo Villavicencio-Lorini, et al.
The Journal of Molecular Diagnostics : JMD|October 21, 2023
Analytical Performance Evaluation of a 523-Gene Circulating Tumor DNA Assay for Next-Generation Sequencing-Based Comprehensive Tumor Profiling in Liquid Biopsy SamplesJohannes Harter, Eleonora Buth, Janina Johaenning, et al.
Frontiers in Genetics|June 22, 2023
The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in <i>CDC42</i>: a case reportAleksandra Szczawińska-Popłonyk, Natalia Popłonyk, Magdalena Badura-Stronka, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|August 6, 2021
Hypertransaminasemia and liver fibrosis associated with haptoglobin retention and anhaptoglobinemia in a paediatric patientSophia Gunzer, Andreas Kraus, Inka Buchroth, et al.
Journal of Neurology|May 11, 2015
Clinical variability in ataxia-telangiectasiaEbba Lohmann, Stefanie Krüger, Ann-Kathrin Hauser, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|April 24, 2014
Unusual variability of PRRT2 linked phenotypes within a familyFrieder Brueckner, Bernhard Kohl, Burkhard Puest, et al.
Tremor and Other Hyperkinetic Movements (New York, N.Y.)|October 31, 2017
A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of <i>WDR45</i>Andreas Hermann, Hagen H Kitzler, Tobias Pollack, et al.
Cancers|May 2, 2020
Are Pathogenic Germline Variants in Metastatic Melanoma Associated with Resistance to Combined Immunotherapy?Teresa Amaral, Martin Schulze, Tobias Sinnberg, et al.
Investigative Ophthalmology & Visual Science|July 20, 2018
Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German CohortDitta Zobor, Gergely Zobor, Stephanie Hipp, et al.
Molecular Syndromology|February 9, 2019
Could Dissimilar Phenotypic Effects of <i>ACTB</i> Missense Mutations Reflect the Actin Conformational Change? Two Novel Mutations and Literature ReviewAnna Sandestig, Anna Green, Jon Jonasson, et al.
Pageof 23