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Saskia Biskup

Showing results (51-60 of 226) with videos related to

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Movement Disorders : Official Journal of the Movement Disorder Society|November 2, 2012
DYT7 gene locus for cervical dystonia on chromosome 18p is questionablePia Winter, Christoph Kamm, Saskia Biskup, et al.
Acta Ophthalmologica|July 30, 2021
Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathiesKatarzyna Nowomiejska, Fadi Nasser, Katarina Stingl, et al.
Molecular Genetics and Metabolism|January 20, 2024
Treatment of AICA ribosiduria by suppression of de novo purine synthesisJulien H Park, Ulrike Och, Tim Braun, et al.
Journal of Neurology|December 21, 2017
Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatmentClaudia B Catarino, Christian Vollmar, Clemens Küpper, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|March 7, 2019
Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysisChunxiang Fan, Marius Kuhn, Alexander Pepler Mbiol, et al.
Mitochondrion|January 14, 2015
From ventriculomegaly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1Matthias Kettwig, Max Schubach, Franz A Zimmermann, et al.
Molecular Biology Reports|July 5, 2019
Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like diseaseMarta Owczarek-Lipska, Lejla Mulahasanovic, Carolin D Obermaier, et al.
Neuro-Oncology Practice|April 26, 2021
FGFR3 overexpression is a useful detection tool for FGFR3 fusions and sequence variations in gliomaJens Schittenhelm, Lukas Ziegler, Jan Sperveslage, et al.
American Journal of Medical Genetics. Part A|July 30, 2021
A novel likely pathogenic heterozygous HECW2 missense variant in a family with variable expressivity of neurodevelopmental delay, hypotonia, and epileptiform EEG patternsEv-Christin Heide, Oliver Puk, Saskia Biskup, et al.
Parkinsonism & Related Disorders|December 24, 2013
Dystonia with aphonia, slow horizontal saccades, epilepsy and photic myoclonus: a novel syndrome?Christos Ganos, Saskia Biskup, Stefanie Krüger, et al.
Pageof 23

Showing results (51-60 of 226) with videos related to

Sort By:
Pageof 23
Movement Disorders : Official Journal of the Movement Disorder Society|November 2, 2012
DYT7 gene locus for cervical dystonia on chromosome 18p is questionablePia Winter, Christoph Kamm, Saskia Biskup, et al.
Acta Ophthalmologica|July 30, 2021
Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathiesKatarzyna Nowomiejska, Fadi Nasser, Katarina Stingl, et al.
Molecular Genetics and Metabolism|January 20, 2024
Treatment of AICA ribosiduria by suppression of de novo purine synthesisJulien H Park, Ulrike Och, Tim Braun, et al.
Journal of Neurology|December 21, 2017
Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatmentClaudia B Catarino, Christian Vollmar, Clemens Küpper, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|March 7, 2019
Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysisChunxiang Fan, Marius Kuhn, Alexander Pepler Mbiol, et al.
Mitochondrion|January 14, 2015
From ventriculomegaly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1Matthias Kettwig, Max Schubach, Franz A Zimmermann, et al.
Molecular Biology Reports|July 5, 2019
Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like diseaseMarta Owczarek-Lipska, Lejla Mulahasanovic, Carolin D Obermaier, et al.
Neuro-Oncology Practice|April 26, 2021
FGFR3 overexpression is a useful detection tool for FGFR3 fusions and sequence variations in gliomaJens Schittenhelm, Lukas Ziegler, Jan Sperveslage, et al.
American Journal of Medical Genetics. Part A|July 30, 2021
A novel likely pathogenic heterozygous HECW2 missense variant in a family with variable expressivity of neurodevelopmental delay, hypotonia, and epileptiform EEG patternsEv-Christin Heide, Oliver Puk, Saskia Biskup, et al.
Parkinsonism & Related Disorders|December 24, 2013
Dystonia with aphonia, slow horizontal saccades, epilepsy and photic myoclonus: a novel syndrome?Christos Ganos, Saskia Biskup, Stefanie Krüger, et al.
Pageof 23