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Jacek Majewski

Showing results (321-330 of 333) with videos related to

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Nature Genetics|November 16, 2018
Author Correction: Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndromeTenzin Gayden, Fernando E Sepulveda, Dong-Anh Khuong-Quang, et al.
American Journal of Human Genetics|April 9, 2016
Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in InfancyChristine P Diggle, Stacey J Sukoff Rizzo, Michael Popiolek, et al.
Nature Genetics|June 26, 2012
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromesJean-Baptiste Rivière, Ghayda M Mirzaa, Brian J O'Roak, et al.
Cell|July 10, 2024
TULIPs decorate the three-dimensional genome of PFA ependymomaMichael J Johnston, John J Y Lee, Bo Hu, et al.
Nature Genetics|April 8, 2014
Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytomaAdam M Fontebasso, Simon Papillon-Cavanagh, Jeremy Schwartzentruber, et al.
Nature|January 31, 2012
Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastomaJeremy Schwartzentruber, Andrey Korshunov, Xiao-Yang Liu, et al.
The Journal of Clinical Investigation|February 7, 2017
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiencySvjetlana Lovric, Sara Goncalves, Heon Yung Gee, et al.
Brain : a Journal of Neurology|January 23, 2019
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insightsDevon L Johnstone, Hilal H Al-Shekaili, Maja Tarailo-Graovac, et al.
Nature Genetics|July 3, 2013
Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytomaDavid T W Jones, Barbara Hutter, Natalie Jäger, et al.
Cancer Cell|October 20, 2012
Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastomaDominik Sturm, Hendrik Witt, Volker Hovestadt, et al.
Pageof 34

Showing results (321-330 of 333) with videos related to

Sort By:
Pageof 34
Nature Genetics|November 16, 2018
Author Correction: Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndromeTenzin Gayden, Fernando E Sepulveda, Dong-Anh Khuong-Quang, et al.
American Journal of Human Genetics|April 9, 2016
Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in InfancyChristine P Diggle, Stacey J Sukoff Rizzo, Michael Popiolek, et al.
Nature Genetics|June 26, 2012
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromesJean-Baptiste Rivière, Ghayda M Mirzaa, Brian J O'Roak, et al.
Cell|July 10, 2024
TULIPs decorate the three-dimensional genome of PFA ependymomaMichael J Johnston, John J Y Lee, Bo Hu, et al.
Nature Genetics|April 8, 2014
Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytomaAdam M Fontebasso, Simon Papillon-Cavanagh, Jeremy Schwartzentruber, et al.
Nature|January 31, 2012
Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastomaJeremy Schwartzentruber, Andrey Korshunov, Xiao-Yang Liu, et al.
The Journal of Clinical Investigation|February 7, 2017
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiencySvjetlana Lovric, Sara Goncalves, Heon Yung Gee, et al.
Brain : a Journal of Neurology|January 23, 2019
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insightsDevon L Johnstone, Hilal H Al-Shekaili, Maja Tarailo-Graovac, et al.
Nature Genetics|July 3, 2013
Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytomaDavid T W Jones, Barbara Hutter, Natalie Jäger, et al.
Cancer Cell|October 20, 2012
Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastomaDominik Sturm, Hendrik Witt, Volker Hovestadt, et al.
Pageof 34