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Saskia Biskup

Showing results (21-30 of 226) with videos related to

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Journal of Neurology|January 27, 2016
Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literatureCarlo Wilke, Jörn K Pomper, Saskia Biskup, et al.
The Application of Clinical Genetics|September 9, 2022
Case Report of a Juvenile Patient with Autism Spectrum Disorder with a Novel Combination of Copy Number Variants in <i>ADGRL3</i> (<i>LPHN3</i>) and Two PseudogenesMartin H Maurer, Anja Kohler, Melanie Hudemann, et al.
Molecular Genetics & Genomic Medicine|September 7, 2022
Neurodevelopmental disorder with dystonia due to SOX6 mutationsSusanne A Schneider, Christine Mueller, Saskia Biskup, et al.
European Journal of Human Genetics : EJHG|December 5, 2013
Further delineation of the SATB2 phenotypeDennis Döcker, Max Schubach, Moritz Menzel, et al.
Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie|January 19, 2019
Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 geneLaura Kuehlewein, Ludger Schöls, Pablo Llavona, et al.
Biomolecules|January 27, 2021
Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers-Danlos SyndromeFriedrich Stock, Marcel Hanisch, Sarah Lechner, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 13, 2013
Characterization of peripheral hematopoietic stem cells and monocytes in Parkinson's diseaseNatalja Funk, Peter Wieghofer, Sabrina Grimm, et al.
American Journal of Medical Genetics. Part A|November 26, 2013
Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 geneFlavio Faletra, Adamo P D'Adamo, Irene Bruno, et al.
Journal of Neurology|September 21, 2014
Imaging features in conventional MRI, spectroscopy and diffusion weighted images of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS)Benjamin Bender, Uwe Klose, Tobias Lindig, et al.
International Journal of Molecular Sciences|September 4, 2012
Exome enrichment and SOLiD sequencing of formalin fixed paraffin embedded (FFPE) prostate cancer tissueRoopika Menon, Mario Deng, Diana Boehm, et al.
Pageof 23

Showing results (21-30 of 226) with videos related to

Sort By:
Pageof 23
Journal of Neurology|January 27, 2016
Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literatureCarlo Wilke, Jörn K Pomper, Saskia Biskup, et al.
The Application of Clinical Genetics|September 9, 2022
Case Report of a Juvenile Patient with Autism Spectrum Disorder with a Novel Combination of Copy Number Variants in <i>ADGRL3</i> (<i>LPHN3</i>) and Two PseudogenesMartin H Maurer, Anja Kohler, Melanie Hudemann, et al.
Molecular Genetics & Genomic Medicine|September 7, 2022
Neurodevelopmental disorder with dystonia due to SOX6 mutationsSusanne A Schneider, Christine Mueller, Saskia Biskup, et al.
European Journal of Human Genetics : EJHG|December 5, 2013
Further delineation of the SATB2 phenotypeDennis Döcker, Max Schubach, Moritz Menzel, et al.
Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie|January 19, 2019
Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 geneLaura Kuehlewein, Ludger Schöls, Pablo Llavona, et al.
Biomolecules|January 27, 2021
Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers-Danlos SyndromeFriedrich Stock, Marcel Hanisch, Sarah Lechner, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 13, 2013
Characterization of peripheral hematopoietic stem cells and monocytes in Parkinson's diseaseNatalja Funk, Peter Wieghofer, Sabrina Grimm, et al.
American Journal of Medical Genetics. Part A|November 26, 2013
Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 geneFlavio Faletra, Adamo P D'Adamo, Irene Bruno, et al.
Journal of Neurology|September 21, 2014
Imaging features in conventional MRI, spectroscopy and diffusion weighted images of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS)Benjamin Bender, Uwe Klose, Tobias Lindig, et al.
International Journal of Molecular Sciences|September 4, 2012
Exome enrichment and SOLiD sequencing of formalin fixed paraffin embedded (FFPE) prostate cancer tissueRoopika Menon, Mario Deng, Diana Boehm, et al.
Pageof 23