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Christian Beetz

Showing results (21-30 of 160) with videos related to

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Neuroscience Letters|September 15, 2004
Expression of ether à go-go potassium channels in human gliomasStephan Patt, Katja Preussat, Christian Beetz, et al.
Molecular and Cellular Probes|August 25, 2018
Development and validation of a TTR-specific copy number screening tool, and application to potentially relevant patient cohortsAmir Jahic, Andrea Bock, Franz Duca, et al.
Biochemical and Biophysical Research Communications|May 19, 2004
Identification of nuclear localisation sequences in spastin (SPG4) using a novel Tetra-GFP reporter systemChristian Beetz, Michael Brodhun, Konstantin Moutzouris, et al.
Human Genome Variation|October 22, 2016
Maternal mosaicism for <i>IDUA</i> deletion clarifies recurrence risk in MPS ICatherine Breen, Jean Mercer, Simon A Jones, et al.
Laboratory Medicine|March 1, 2023
Autosomal Recessive Renal Hypouricemia Type 2 Presenting with Childhood Stroke in a Sri Lankan ChildP Mihika S Fernando, R A Saraji R Gunasekara, Sabine Schröder, et al.
Journal of Human Genetics|June 24, 2016
SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegiaAnna Uhrová Mészárosová, Martina Putzová, Marie Čermáková, et al.
Clinical Genetics|December 18, 2019
VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial featuresChristian Beetz, Najim Ameziane, Ameni Kdissa, et al.
Gene|June 5, 2016
Identification of the first multi-exonic WDR72 deletion in isolated amelogenesis imperfecta, and generation of a WDR72-specific copy number screening toolJulia Hentschel, Dana Tatun, Dmitri Parkhomchuk, et al.
Journal of Human Immunity|January 29, 2026
Genotypes truncating the intracellular tail of human pre-TCRα: From amorphic to isomorphicMarie Materna, Christian Beetz, Christian A Ganoza, et al.
Mitochondrion|June 24, 2022
Clinical and genetic spectrum of mitochondrial DNA depletion syndromes: A report of 6 cases with 4 novel variantsNihal AlMenabawy, Hebatallah M Hassaan, Manal Ramadan, et al.
Pageof 16

Showing results (21-30 of 160) with videos related to

Sort By:
Pageof 16
Neuroscience Letters|September 15, 2004
Expression of ether à go-go potassium channels in human gliomasStephan Patt, Katja Preussat, Christian Beetz, et al.
Molecular and Cellular Probes|August 25, 2018
Development and validation of a TTR-specific copy number screening tool, and application to potentially relevant patient cohortsAmir Jahic, Andrea Bock, Franz Duca, et al.
Biochemical and Biophysical Research Communications|May 19, 2004
Identification of nuclear localisation sequences in spastin (SPG4) using a novel Tetra-GFP reporter systemChristian Beetz, Michael Brodhun, Konstantin Moutzouris, et al.
Human Genome Variation|October 22, 2016
Maternal mosaicism for <i>IDUA</i> deletion clarifies recurrence risk in MPS ICatherine Breen, Jean Mercer, Simon A Jones, et al.
Laboratory Medicine|March 1, 2023
Autosomal Recessive Renal Hypouricemia Type 2 Presenting with Childhood Stroke in a Sri Lankan ChildP Mihika S Fernando, R A Saraji R Gunasekara, Sabine Schröder, et al.
Journal of Human Genetics|June 24, 2016
SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegiaAnna Uhrová Mészárosová, Martina Putzová, Marie Čermáková, et al.
Clinical Genetics|December 18, 2019
VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial featuresChristian Beetz, Najim Ameziane, Ameni Kdissa, et al.
Gene|June 5, 2016
Identification of the first multi-exonic WDR72 deletion in isolated amelogenesis imperfecta, and generation of a WDR72-specific copy number screening toolJulia Hentschel, Dana Tatun, Dmitri Parkhomchuk, et al.
Journal of Human Immunity|January 29, 2026
Genotypes truncating the intracellular tail of human pre-TCRα: From amorphic to isomorphicMarie Materna, Christian Beetz, Christian A Ganoza, et al.
Mitochondrion|June 24, 2022
Clinical and genetic spectrum of mitochondrial DNA depletion syndromes: A report of 6 cases with 4 novel variantsNihal AlMenabawy, Hebatallah M Hassaan, Manal Ramadan, et al.
Pageof 16