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Bernt Popp

Showing results (1-10 of 86) with videos related to

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Plos One|January 28, 2014
CUSHAW3: sensitive and accurate base-space and color-space short-read alignment with hybrid seedingYongchao Liu, Bernt Popp, Bertil Schmidt
European Journal of Human Genetics : EJHG|July 17, 2023
Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18Tobias Bartolomaeus, Julia Hentschel, Rami Abou Jamra, et al.
Iscience|August 19, 2022
Detecting tandem repeat variants in coding regions using code-adVNTRJonghun Park, Mehrdad Bakhtiari, Bernt Popp, et al.
Human Genetics|October 28, 2024
The MorbidGenes panel: a monthly updated list of diagnostically relevant rare disease genes derived from diverse sourcesRobin-Tobias Jauss, Bernt Popp, Joachim Bachmann, et al.
Frontiers in Genetics|July 12, 2021
Challenging Disease Ontology by Instances of Atypical <i>PKHD1</i> and <i>PKD1</i> GeneticsJonathan de Fallois, Ria Schönauer, Johannes Münch, et al.
Human Mutation|August 23, 2022
AutoCaSc: Prioritizing candidate genes for neurodevelopmental disordersJohann Kaspar Lieberwirth, Benjamin Büttner, Chiara Klöckner, et al.
Frontiers in Neurology|October 17, 2024
Intrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants in <i>CACNA1A</i>Dilbar Mammadova, Cornelia Kraus, Thomas Leis, et al.
Human Mutation|July 18, 2025
Incorporating Nanopore Sequencing Into a Diverse Diagnostic Toolkit for Incontinentia PigmentiSimone Ahting, Denny Popp, Henry Oppermann, et al.
European Journal of Human Genetics : EJHG|October 25, 2021
Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disordersJulia Klau, Rami Abou Jamra, Maximilian Radtke, et al.
European Journal of Medical Genetics|September 11, 2016
Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1Bernt Popp, Regina Trollmann, Christian Büttner, et al.
Pageof 9

Showing results (1-10 of 86) with videos related to

Sort By:
Pageof 9
Plos One|January 28, 2014
CUSHAW3: sensitive and accurate base-space and color-space short-read alignment with hybrid seedingYongchao Liu, Bernt Popp, Bertil Schmidt
European Journal of Human Genetics : EJHG|July 17, 2023
Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18Tobias Bartolomaeus, Julia Hentschel, Rami Abou Jamra, et al.
Iscience|August 19, 2022
Detecting tandem repeat variants in coding regions using code-adVNTRJonghun Park, Mehrdad Bakhtiari, Bernt Popp, et al.
Human Genetics|October 28, 2024
The MorbidGenes panel: a monthly updated list of diagnostically relevant rare disease genes derived from diverse sourcesRobin-Tobias Jauss, Bernt Popp, Joachim Bachmann, et al.
Frontiers in Genetics|July 12, 2021
Challenging Disease Ontology by Instances of Atypical <i>PKHD1</i> and <i>PKD1</i> GeneticsJonathan de Fallois, Ria Schönauer, Johannes Münch, et al.
Human Mutation|August 23, 2022
AutoCaSc: Prioritizing candidate genes for neurodevelopmental disordersJohann Kaspar Lieberwirth, Benjamin Büttner, Chiara Klöckner, et al.
Frontiers in Neurology|October 17, 2024
Intrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants in <i>CACNA1A</i>Dilbar Mammadova, Cornelia Kraus, Thomas Leis, et al.
Human Mutation|July 18, 2025
Incorporating Nanopore Sequencing Into a Diverse Diagnostic Toolkit for Incontinentia PigmentiSimone Ahting, Denny Popp, Henry Oppermann, et al.
European Journal of Human Genetics : EJHG|October 25, 2021
Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disordersJulia Klau, Rami Abou Jamra, Maximilian Radtke, et al.
European Journal of Medical Genetics|September 11, 2016
Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1Bernt Popp, Regina Trollmann, Christian Büttner, et al.
Pageof 9