Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Franco Laccone

Showing results (81-90 of 99) with videos related to

Pageof 10
Sort By:
Frontiers in Cellular Neuroscience|December 7, 2020
A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype CorrelationThomas Parzefall, Alexandra Frohne, Martin Koenighofer, et al.
Orphanet Journal of Rare Diseases|March 13, 2024
Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one caseMateja Pfeifer, Helga Rehder, Maria Gerykova Bujalkova, et al.
Neurogenetics|February 15, 2011
Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like featuresNils Rademacher, Melanie Hambrock, Ute Fischer, et al.
American Journal of Human Genetics|November 15, 2016
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized DystoniaMichael Zech, Sylvia Boesch, Esther M Maier, et al.
International Journal of Molecular Sciences|December 17, 2024
Somatic Recombination Between an Ancient and a Recent <i>NOTCH2</i> Gene Variant Is Associated with the NOTCH2 Gain-of-Function Phenotype in Chronic Lymphocytic LeukemiaRainer Hubmann, Martin Hilgarth, Tamara Löwenstern, et al.
Stem Cells and Development|January 2, 2024
Generation and Characterization of a Human Neuronal In Vitro Model for Rett Syndrome Using a Direct Reprogramming MethodAnna Huber, Victoria Sarne, Alexander V Beribisky, et al.
International Journal of Biological Macromolecules|April 23, 2022
TAT-MeCP2 protein variants rescue disease phenotypes in human and mouse models of Rett syndromeHannes Steinkellner, Prakasha Kempaiah, Alexander V Beribisky, et al.
Frontiers in Neuroscience|May 14, 2023
Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA diseaseAntti Tallgren, Leo Kager, Gina O'Grady, et al.
Human Genetics|November 29, 2022
A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestationAlexandra Frohne, Martin Koenighofer, Hakan Cetin, et al.
Annals of Neurology|July 12, 2002
Trinucleotide repeat expansions in the junctophilin-3 gene are not found in Caucasian patients with a Huntington's disease-like phenotypeIngrid Bauer, Martin Gencik, Franco Laccone, et al.
Pageof 10

Showing results (81-90 of 99) with videos related to

Sort By:
Pageof 10
Frontiers in Cellular Neuroscience|December 7, 2020
A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype CorrelationThomas Parzefall, Alexandra Frohne, Martin Koenighofer, et al.
Orphanet Journal of Rare Diseases|March 13, 2024
Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one caseMateja Pfeifer, Helga Rehder, Maria Gerykova Bujalkova, et al.
Neurogenetics|February 15, 2011
Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like featuresNils Rademacher, Melanie Hambrock, Ute Fischer, et al.
American Journal of Human Genetics|November 15, 2016
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized DystoniaMichael Zech, Sylvia Boesch, Esther M Maier, et al.
International Journal of Molecular Sciences|December 17, 2024
Somatic Recombination Between an Ancient and a Recent <i>NOTCH2</i> Gene Variant Is Associated with the NOTCH2 Gain-of-Function Phenotype in Chronic Lymphocytic LeukemiaRainer Hubmann, Martin Hilgarth, Tamara Löwenstern, et al.
Stem Cells and Development|January 2, 2024
Generation and Characterization of a Human Neuronal In Vitro Model for Rett Syndrome Using a Direct Reprogramming MethodAnna Huber, Victoria Sarne, Alexander V Beribisky, et al.
International Journal of Biological Macromolecules|April 23, 2022
TAT-MeCP2 protein variants rescue disease phenotypes in human and mouse models of Rett syndromeHannes Steinkellner, Prakasha Kempaiah, Alexander V Beribisky, et al.
Frontiers in Neuroscience|May 14, 2023
Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA diseaseAntti Tallgren, Leo Kager, Gina O'Grady, et al.
Human Genetics|November 29, 2022
A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestationAlexandra Frohne, Martin Koenighofer, Hakan Cetin, et al.
Annals of Neurology|July 12, 2002
Trinucleotide repeat expansions in the junctophilin-3 gene are not found in Caucasian patients with a Huntington's disease-like phenotypeIngrid Bauer, Martin Gencik, Franco Laccone, et al.
Pageof 10