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Alexander Hoischen

Showing results (31-40 of 249) with videos related to

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Human Mutation|April 5, 2014
Cantú syndrome resulting from activating mutation in the KCNJ8 genePaige E Cooper, Heiko Reutter, Joachim Woelfle, et al.
Human Genomics|May 3, 2023
Twist exome capture allows for lower average sequence coverage in clinical exome sequencingBurcu Yaldiz, Erdi Kucuk, Juliet Hampstead, et al.
Brain Pathology (Zurich, Switzerland)|March 29, 2008
Comprehensive characterization of genomic aberrations in gangliogliomas by CGH, array-based CGH and interphase FISHAlexander Hoischen, Marion Ehrler, Jana Fassunke, et al.
Cytokine|December 8, 2022
Effect of exogenous IL-37 on immune cells from a patient carrying a potential IL37 loss-of-function variant: A case studyLisa U Teufel, Caspar I van der Made, Viola Klück, et al.
European Journal of Human Genetics : EJHG|March 5, 2015
Syndromic X-linked intellectual disability segregating with a missense variant in RLIMElin Tønne, Rita Holdhus, Christine Stansberg, et al.
Bioinformatics (Oxford, England)|June 12, 2016
RareVariantVis: new tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing dataTomasz Stokowy, Mateusz Garbulowski, Torunn Fiskerstrand, et al.
Blood|June 5, 2013
Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndromeSergey I Nikolaev, Federico Santoni, Anne Vannier, et al.
Current Protocols|July 5, 2024
Optical Genome Mapping for Applications in Repeat Expansion DisordersBart van der Sanden, Kornelia Neveling, Andy Wing Chun Pang, et al.
Scientific Reports|March 4, 2024
Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencingFrançois Lecoquierre, Kévin Cassinari, Nathalie Drouot, et al.
Annals of Clinical and Translational Neurology|April 5, 2016
Progressive multifocal leukoencephalopathy in an immunocompetent patientNicolien M van der Kolk, Peer Arts, Ingeborg W M van Uden, et al.
Pageof 25

Showing results (31-40 of 249) with videos related to

Sort By:
Pageof 25
Human Mutation|April 5, 2014
Cantú syndrome resulting from activating mutation in the KCNJ8 genePaige E Cooper, Heiko Reutter, Joachim Woelfle, et al.
Human Genomics|May 3, 2023
Twist exome capture allows for lower average sequence coverage in clinical exome sequencingBurcu Yaldiz, Erdi Kucuk, Juliet Hampstead, et al.
Brain Pathology (Zurich, Switzerland)|March 29, 2008
Comprehensive characterization of genomic aberrations in gangliogliomas by CGH, array-based CGH and interphase FISHAlexander Hoischen, Marion Ehrler, Jana Fassunke, et al.
Cytokine|December 8, 2022
Effect of exogenous IL-37 on immune cells from a patient carrying a potential IL37 loss-of-function variant: A case studyLisa U Teufel, Caspar I van der Made, Viola Klück, et al.
European Journal of Human Genetics : EJHG|March 5, 2015
Syndromic X-linked intellectual disability segregating with a missense variant in RLIMElin Tønne, Rita Holdhus, Christine Stansberg, et al.
Bioinformatics (Oxford, England)|June 12, 2016
RareVariantVis: new tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing dataTomasz Stokowy, Mateusz Garbulowski, Torunn Fiskerstrand, et al.
Blood|June 5, 2013
Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndromeSergey I Nikolaev, Federico Santoni, Anne Vannier, et al.
Current Protocols|July 5, 2024
Optical Genome Mapping for Applications in Repeat Expansion DisordersBart van der Sanden, Kornelia Neveling, Andy Wing Chun Pang, et al.
Scientific Reports|March 4, 2024
Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencingFrançois Lecoquierre, Kévin Cassinari, Nathalie Drouot, et al.
Annals of Clinical and Translational Neurology|April 5, 2016
Progressive multifocal leukoencephalopathy in an immunocompetent patientNicolien M van der Kolk, Peer Arts, Ingeborg W M van Uden, et al.
Pageof 25