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Ingo Kurth

Showing results (41-50 of 145) with videos related to

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European Journal of Cardio-Thoracic Surgery : Official Journal of the European Association for Cardio-Thoracic Surgery|April 8, 2017
Genetic abnormalities in bicuspid aortic valve root phenotype: preliminary resultsEvaldas Girdauskas, Lisa Geist, Kushtrim Disha, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|May 18, 2016
Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomyIngo Kurth, Manuela Baumgartner, Maria Schabhüttl, et al.
Journal of Molecular Medicine (Berlin, Germany)|August 26, 2020
Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is importantThomas Eggermann, Johanna Brück, Cordula Knopp, et al.
Molecular Genetics & Genomic Medicine|November 28, 2017
The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism?Thomas Eggermann, Barbara Oehl-Jaschkowitz, Severin Dicks, et al.
Molecular and Cellular Biology|December 16, 2005
Mice with a targeted disruption of the Cl-/HCO3- exchanger AE3 display a reduced seizure thresholdMoritz Hentschke, Martin Wiemann, Suna Hentschke, et al.
Molecular Genetics & Genomic Medicine|November 6, 2018
Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contracturesMiriam Elbracht, Florian Kraft, Matthias Begemann, et al.
Plos One|February 8, 2019
Sepsis induces long-lasting impairments in CD4+ T-cell responses despite rapid numerical recovery of T-lymphocyte populationsChristoph Ammer-Herrmenau, Upasana Kulkarni, Nico Andreas, et al.
Journal of Medical Genetics|June 14, 2024
Complex structural variation and nonsense variant <i>in trans</i> cause <i>VPS50</i>-related disorderLaura Hecher, Esther Gorski-Alberts, Matthias Begemann, et al.
Clinical Case Reports|March 14, 2022
Novel homozygous nonsense mutation in the P5'N-1 coding gene as an alternative cause for hereditary anemia with basophilic stipplingMartin Kirschner, Inga Rebecca Heinen, Steffen Koschmieder, et al.
Plos One|August 21, 2020
Gain-of-function mutation in SCN11A causes itch and affects neurogenic inflammation and muscle function in Scn11a+/L799P miceMatthias Ebbinghaus, Lorena Tuchscherr, Gisela Segond von Banchet, et al.
Pageof 15

Showing results (41-50 of 145) with videos related to

Sort By:
Pageof 15
European Journal of Cardio-Thoracic Surgery : Official Journal of the European Association for Cardio-Thoracic Surgery|April 8, 2017
Genetic abnormalities in bicuspid aortic valve root phenotype: preliminary resultsEvaldas Girdauskas, Lisa Geist, Kushtrim Disha, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|May 18, 2016
Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomyIngo Kurth, Manuela Baumgartner, Maria Schabhüttl, et al.
Journal of Molecular Medicine (Berlin, Germany)|August 26, 2020
Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is importantThomas Eggermann, Johanna Brück, Cordula Knopp, et al.
Molecular Genetics & Genomic Medicine|November 28, 2017
The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism?Thomas Eggermann, Barbara Oehl-Jaschkowitz, Severin Dicks, et al.
Molecular and Cellular Biology|December 16, 2005
Mice with a targeted disruption of the Cl-/HCO3- exchanger AE3 display a reduced seizure thresholdMoritz Hentschke, Martin Wiemann, Suna Hentschke, et al.
Molecular Genetics & Genomic Medicine|November 6, 2018
Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contracturesMiriam Elbracht, Florian Kraft, Matthias Begemann, et al.
Plos One|February 8, 2019
Sepsis induces long-lasting impairments in CD4+ T-cell responses despite rapid numerical recovery of T-lymphocyte populationsChristoph Ammer-Herrmenau, Upasana Kulkarni, Nico Andreas, et al.
Journal of Medical Genetics|June 14, 2024
Complex structural variation and nonsense variant <i>in trans</i> cause <i>VPS50</i>-related disorderLaura Hecher, Esther Gorski-Alberts, Matthias Begemann, et al.
Clinical Case Reports|March 14, 2022
Novel homozygous nonsense mutation in the P5'N-1 coding gene as an alternative cause for hereditary anemia with basophilic stipplingMartin Kirschner, Inga Rebecca Heinen, Steffen Koschmieder, et al.
Plos One|August 21, 2020
Gain-of-function mutation in SCN11A causes itch and affects neurogenic inflammation and muscle function in Scn11a+/L799P miceMatthias Ebbinghaus, Lorena Tuchscherr, Gisela Segond von Banchet, et al.
Pageof 15