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Alessandro Bruselles

Showing results (21-30 of 78) with videos related to

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International Journal of Molecular Sciences|April 17, 2025
Variable Ophthalmologic Phenotypes Associated with Biallelic Loss-of-Function Variants in <i>POMGNT1</i>Lucia Ziccardi, Lucilla Barbano, Mattia D'Andrea, et al.
Gene|July 13, 2017
Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndromeMaria Lisa Dentici, Sabina Barresi, Marta Nardella, et al.
Frontiers in Oncology|July 15, 2022
An Orthotopic Patient-Derived Xenograft (PDX) Model Allows the Analysis of Metastasis-Associated Features in Colorectal CancerMaria Laura De Angelis, Federica Francescangeli, Chiara Nicolazzo, et al.
International Journal of Molecular Sciences|July 2, 2021
<i>KCNK18</i> Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel ActivityLisa Pavinato, Ehsan Nematian-Ardestani, Andrea Zonta, et al.
Cancer Research|November 3, 2017
Novel <i>SEC61G</i>-<i>EGFR</i> Fusion Gene in Pediatric Ependymomas Discovered by Clonal Expansion of Stem Cells in Absence of Exogenous MitogensTiziana Servidei, Daniela Meco, Valentina Muto, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 2, 2017
Somatic mosaicism represents an underestimated event underlying collagen 6-related disordersAdele D'Amico, Fabiana Fattori, Giorgio Tasca, et al.
International Journal of Molecular Sciences|August 10, 2024
Whole Genome Sequencing Solves an Atypical Form of Bardet-Biedl Syndrome: Identification of Novel Pathogenic Variants of <i>BBS9</i>Emilia Stellacci, Marcello Niceta, Alessandro Bruselles, et al.
American Journal of Medical Genetics. Part A|June 23, 2021
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypesChiara Leoni, Marta Tedesco, Francesca Clementina Radio, et al.
International Journal of Molecular Sciences|March 14, 2026
A Novel Heterozygous <i>ARL3</i> Variant in Non-Syndromic Retinitis Pigmentosa: Clinical and Functional CharacterizationEmilia Stellacci, Lucia Ziccardi, Alessandro Bruselles, et al.
International Journal of Molecular Sciences|December 11, 2022
Biallelic Inactivating <i>TUB</i> Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary CiliumLucia Ziccardi, Marcello Niceta, Emilia Stellacci, et al.
Pageof 8

Showing results (21-30 of 78) with videos related to

Sort By:
Pageof 8
International Journal of Molecular Sciences|April 17, 2025
Variable Ophthalmologic Phenotypes Associated with Biallelic Loss-of-Function Variants in <i>POMGNT1</i>Lucia Ziccardi, Lucilla Barbano, Mattia D'Andrea, et al.
Gene|July 13, 2017
Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndromeMaria Lisa Dentici, Sabina Barresi, Marta Nardella, et al.
Frontiers in Oncology|July 15, 2022
An Orthotopic Patient-Derived Xenograft (PDX) Model Allows the Analysis of Metastasis-Associated Features in Colorectal CancerMaria Laura De Angelis, Federica Francescangeli, Chiara Nicolazzo, et al.
International Journal of Molecular Sciences|July 2, 2021
<i>KCNK18</i> Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel ActivityLisa Pavinato, Ehsan Nematian-Ardestani, Andrea Zonta, et al.
Cancer Research|November 3, 2017
Novel <i>SEC61G</i>-<i>EGFR</i> Fusion Gene in Pediatric Ependymomas Discovered by Clonal Expansion of Stem Cells in Absence of Exogenous MitogensTiziana Servidei, Daniela Meco, Valentina Muto, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 2, 2017
Somatic mosaicism represents an underestimated event underlying collagen 6-related disordersAdele D'Amico, Fabiana Fattori, Giorgio Tasca, et al.
International Journal of Molecular Sciences|August 10, 2024
Whole Genome Sequencing Solves an Atypical Form of Bardet-Biedl Syndrome: Identification of Novel Pathogenic Variants of <i>BBS9</i>Emilia Stellacci, Marcello Niceta, Alessandro Bruselles, et al.
American Journal of Medical Genetics. Part A|June 23, 2021
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypesChiara Leoni, Marta Tedesco, Francesca Clementina Radio, et al.
International Journal of Molecular Sciences|March 14, 2026
A Novel Heterozygous <i>ARL3</i> Variant in Non-Syndromic Retinitis Pigmentosa: Clinical and Functional CharacterizationEmilia Stellacci, Lucia Ziccardi, Alessandro Bruselles, et al.
International Journal of Molecular Sciences|December 11, 2022
Biallelic Inactivating <i>TUB</i> Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary CiliumLucia Ziccardi, Marcello Niceta, Emilia Stellacci, et al.
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