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Anna Benet-Pages

Showing results (1-10 of 10) with videos related to

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Familial Cancer|February 1, 2020
Prevalence of CNV-neutral structural genomic rearrangements in MLH1, MSH2, and PMS2 not detectable in routine NGS diagnosticsMonika Morak, Verena Steinke-Lange, Trisari Massdorf, et al.
Genes|March 28, 2024
Optical Genome Mapping as a Potential Routine Clinical Diagnostic MethodHayk Barseghyan, Doris Eisenreich, Evgenia Lindt, et al.
Molecular and Cellular Probes|September 2, 2015
Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 geneCornelia Köhler, Christoph Heyer, Sabine Hoffjan, et al.
American Journal of Human Genetics|December 17, 2005
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3Bettina Lorenz-Depiereux, Anna Benet-Pages, Gertrud Eckstein, et al.
Brain : a Journal of Neurology|March 23, 2013
Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2Elisabeth Stogmann, Eva Reinthaler, Salwa Eltawil, et al.
Nucleic Acids Research|October 26, 2024
The UCSC Genome Browser database: 2025 updateGerardo Perez, Galt P Barber, Anna Benet-Pages, et al.
Journal of Medical Genetics|February 5, 2016
Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestaltNataliya Di Donato, Teresa Neuhann, Anne-Karin Kahlert, et al.
Plos Genetics|August 10, 2016
Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian CancerAndreas Rump, Anna Benet-Pages, Steffen Schubert, et al.
Nucleic Acids Research|November 18, 2025
The UCSC Genome Browser database: 2026 updateJonathan Casper, Matthew L Speir, Brian J Raney, et al.
Brain : a Journal of Neurology|September 3, 2025
Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencingHannes Erdmann, Annalisa Schaub, Morghan C Lucas, et al.
Pageof 1

Showing results (1-10 of 10) with videos related to

Sort By:
Pageof 1
Familial Cancer|February 1, 2020
Prevalence of CNV-neutral structural genomic rearrangements in MLH1, MSH2, and PMS2 not detectable in routine NGS diagnosticsMonika Morak, Verena Steinke-Lange, Trisari Massdorf, et al.
Genes|March 28, 2024
Optical Genome Mapping as a Potential Routine Clinical Diagnostic MethodHayk Barseghyan, Doris Eisenreich, Evgenia Lindt, et al.
Molecular and Cellular Probes|September 2, 2015
Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 geneCornelia Köhler, Christoph Heyer, Sabine Hoffjan, et al.
American Journal of Human Genetics|December 17, 2005
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3Bettina Lorenz-Depiereux, Anna Benet-Pages, Gertrud Eckstein, et al.
Brain : a Journal of Neurology|March 23, 2013
Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2Elisabeth Stogmann, Eva Reinthaler, Salwa Eltawil, et al.
Nucleic Acids Research|October 26, 2024
The UCSC Genome Browser database: 2025 updateGerardo Perez, Galt P Barber, Anna Benet-Pages, et al.
Journal of Medical Genetics|February 5, 2016
Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestaltNataliya Di Donato, Teresa Neuhann, Anne-Karin Kahlert, et al.
Plos Genetics|August 10, 2016
Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian CancerAndreas Rump, Anna Benet-Pages, Steffen Schubert, et al.
Nucleic Acids Research|November 18, 2025
The UCSC Genome Browser database: 2026 updateJonathan Casper, Matthew L Speir, Brian J Raney, et al.
Brain : a Journal of Neurology|September 3, 2025
Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencingHannes Erdmann, Annalisa Schaub, Morghan C Lucas, et al.
Pageof 1