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Saskia Biskup

Showing results (81-90 of 226) with videos related to

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Glycobiology|February 9, 2022
Serum N-glycomics of a novel CDG-IIb patient reveals aberrant IgG glycosylationJulia Beimdiek, René Hennig, Robert Burock, et al.
BMC Neuroscience|November 30, 2007
Dynamic and redundant regulation of LRRK2 and LRRK1 expressionSaskia Biskup, Darren J Moore, Alexis Rea, et al.
American Journal of Medical Genetics. Part A|September 15, 2016
A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasiaMax Hogrebe, Yoshiko Murakami, Martin Wild, et al.
International Journal of Molecular Sciences|February 11, 2023
Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal DystrophyJan-Philipp Bodenbender, Valerio Marino, Leon Bethge, et al.
Oncotarget|September 16, 2020
Sequencing for an interdisciplinary molecular tumor board in patients with advanced breast cancer: experiences from a case seriesChristina Walter, Andreas Hartkopf, Andre Koch, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 5, 2005
Parkinson's disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activityAndrew B West, Darren J Moore, Saskia Biskup, et al.
Neurobiology of Aging|August 16, 2012
Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotypeMatthis Synofzik, Walter Maetzler, Torsten Grehl, et al.
Gene|March 12, 2013
Expanding the mutation spectrum for Fraser syndrome: identification of a novel heterozygous deletion in FRAS1Julia Hoefele, Christian Wilhelm, Monika Schiesser, et al.
Neuropediatrics|April 1, 2021
Pitfalls in Genetic Diagnostics: Why Phenotyping is EssentialJanina Gburek-Augustat, Jan-Christoph Schoene-Bake, Eva Bültmann, et al.
BMC Neurology|July 5, 2015
Comprehensive diagnostics in a case of hereditary diffuse leukodystrophy with spheroidsMarie Meyer-Ohlendorf, Anne Braczynski, Omar Al-Qaisi, et al.
Pageof 23

Showing results (81-90 of 226) with videos related to

Sort By:
Pageof 23
Glycobiology|February 9, 2022
Serum N-glycomics of a novel CDG-IIb patient reveals aberrant IgG glycosylationJulia Beimdiek, René Hennig, Robert Burock, et al.
BMC Neuroscience|November 30, 2007
Dynamic and redundant regulation of LRRK2 and LRRK1 expressionSaskia Biskup, Darren J Moore, Alexis Rea, et al.
American Journal of Medical Genetics. Part A|September 15, 2016
A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasiaMax Hogrebe, Yoshiko Murakami, Martin Wild, et al.
International Journal of Molecular Sciences|February 11, 2023
Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal DystrophyJan-Philipp Bodenbender, Valerio Marino, Leon Bethge, et al.
Oncotarget|September 16, 2020
Sequencing for an interdisciplinary molecular tumor board in patients with advanced breast cancer: experiences from a case seriesChristina Walter, Andreas Hartkopf, Andre Koch, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 5, 2005
Parkinson's disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activityAndrew B West, Darren J Moore, Saskia Biskup, et al.
Neurobiology of Aging|August 16, 2012
Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotypeMatthis Synofzik, Walter Maetzler, Torsten Grehl, et al.
Gene|March 12, 2013
Expanding the mutation spectrum for Fraser syndrome: identification of a novel heterozygous deletion in FRAS1Julia Hoefele, Christian Wilhelm, Monika Schiesser, et al.
Neuropediatrics|April 1, 2021
Pitfalls in Genetic Diagnostics: Why Phenotyping is EssentialJanina Gburek-Augustat, Jan-Christoph Schoene-Bake, Eva Bültmann, et al.
BMC Neurology|July 5, 2015
Comprehensive diagnostics in a case of hereditary diffuse leukodystrophy with spheroidsMarie Meyer-Ohlendorf, Anne Braczynski, Omar Al-Qaisi, et al.
Pageof 23