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Franco Laccone

Showing results (51-60 of 99) with videos related to

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Orphanet Journal of Rare Diseases|July 7, 2026
Triple A syndrome with a new mutation pattern, first documented case in Austria: a case report with literature reviewKarolina Anderle, Theresa Muellner-Bucsics, Alek Stadlmann, et al.
Annals of Neurology|March 14, 2002
Protein surveillance machinery in brains with spinocerebellar ataxia type 3: redistribution and differential recruitment of 26S proteasome subunits and chaperones to neuronal intranuclear inclusionsThorsten Schmidt, Katrin S Lindenberg, Antje Krebs, et al.
International Journal of Molecular Sciences|June 26, 2025
Establishment of a Stable BK Polyomavirus-Secreting Cell Line: Characterization of Viral Genome Integration and Replication Dynamics Through Comprehensive AnalysisTamara Löwenstern, David Vecsei, David Horner, et al.
Journal of Assisted Reproduction and Genetics|April 20, 2024
Aneuploidy detection in pooled polar bodies using rapid nanopore sequencingSilvia Madritsch, Vivienne Arnold, Martha Haider, et al.
Orphanet Journal of Rare Diseases|June 15, 2019
The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature reviewMarlies Colman, Tim Van Damme, Elisabeth Steichen-Gersdorf, et al.
Frontiers in Genetics|June 16, 2023
Phenotyping of a novel <i>COL4A4</i> and novel <i>GLA</i> variant in a patient presenting with microhematuria and mildly impaired kidney function: a case reportMarkus Ponleitner, Daniela Maria Allmer, Manfred Hecking, et al.
Orphanet Journal of Rare Diseases|March 17, 2023
Brain malformations in diprosopia observed in clinical cases, museum specimens and artistic representationsHelga Rehder, Susanne G Kircher, Katharina Schoner, et al.
Translational Vision Science & Technology|March 21, 2022
Characterization of Choriocapillaris and Choroidal Abnormalities in Alport SyndromeMaria Vittoria Cicinelli, Markus Ritter, Hassan Tausif, et al.
Wiener Klinische Wochenschrift|October 6, 2025
Nutcracker syndrome in an Alport family: a tricky caseSophie Henriette Schmidt, Diego Parada Rodriguez, Daniela Maria Allmer, et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|March 12, 2021
High Prevalence of MYO6 Variants in an Austrian Patient Cohort With Autosomal Dominant Hereditary Hearing LossAlexandra Frohne, Martin Koenighofer, David Tianxiang Liu, et al.
Pageof 10

Showing results (51-60 of 99) with videos related to

Sort By:
Pageof 10
Orphanet Journal of Rare Diseases|July 7, 2026
Triple A syndrome with a new mutation pattern, first documented case in Austria: a case report with literature reviewKarolina Anderle, Theresa Muellner-Bucsics, Alek Stadlmann, et al.
Annals of Neurology|March 14, 2002
Protein surveillance machinery in brains with spinocerebellar ataxia type 3: redistribution and differential recruitment of 26S proteasome subunits and chaperones to neuronal intranuclear inclusionsThorsten Schmidt, Katrin S Lindenberg, Antje Krebs, et al.
International Journal of Molecular Sciences|June 26, 2025
Establishment of a Stable BK Polyomavirus-Secreting Cell Line: Characterization of Viral Genome Integration and Replication Dynamics Through Comprehensive AnalysisTamara Löwenstern, David Vecsei, David Horner, et al.
Journal of Assisted Reproduction and Genetics|April 20, 2024
Aneuploidy detection in pooled polar bodies using rapid nanopore sequencingSilvia Madritsch, Vivienne Arnold, Martha Haider, et al.
Orphanet Journal of Rare Diseases|June 15, 2019
The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature reviewMarlies Colman, Tim Van Damme, Elisabeth Steichen-Gersdorf, et al.
Frontiers in Genetics|June 16, 2023
Phenotyping of a novel <i>COL4A4</i> and novel <i>GLA</i> variant in a patient presenting with microhematuria and mildly impaired kidney function: a case reportMarkus Ponleitner, Daniela Maria Allmer, Manfred Hecking, et al.
Orphanet Journal of Rare Diseases|March 17, 2023
Brain malformations in diprosopia observed in clinical cases, museum specimens and artistic representationsHelga Rehder, Susanne G Kircher, Katharina Schoner, et al.
Translational Vision Science & Technology|March 21, 2022
Characterization of Choriocapillaris and Choroidal Abnormalities in Alport SyndromeMaria Vittoria Cicinelli, Markus Ritter, Hassan Tausif, et al.
Wiener Klinische Wochenschrift|October 6, 2025
Nutcracker syndrome in an Alport family: a tricky caseSophie Henriette Schmidt, Diego Parada Rodriguez, Daniela Maria Allmer, et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|March 12, 2021
High Prevalence of MYO6 Variants in an Austrian Patient Cohort With Autosomal Dominant Hereditary Hearing LossAlexandra Frohne, Martin Koenighofer, David Tianxiang Liu, et al.
Pageof 10