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Francesco Vetrini

Showing results (21-30 of 57) with videos related to

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Molecular Therapy : the Journal of the American Society of Gene Therapy|October 21, 2010
Modifications of adenovirus hexon allow for either hepatocyte detargeting or targeting with potential evasion from Kupffer cellsJan-Michael Prill, Sigrid Espenlaub, Ulrike Samen, et al.
The Journal of Molecular Diagnostics : JMD|May 21, 2021
Characterization of Reference Materials with an Association for Molecular Pathology Pharmacogenetics Working Group Tier 2 Status: CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, and GGCX: A GeT-RM Collaborative ProjectVictoria M Pratt, Amy Turner, Ulrich Broeckel, et al.
The EMBO Journal|February 21, 2012
A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEBCarmine Settembre, Roberto Zoncu, Diego L Medina, et al.
Science (New York, N.Y.)|May 28, 2011
TFEB links autophagy to lysosomal biogenesisCarmine Settembre, Chiara Di Malta, Vinicia Assunta Polito, et al.
American Journal of Medical Genetics. Part A|September 13, 2019
An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3Valerie J Castelluccio, Francesco Vetrini, Ty Lynnes, et al.
American Journal of Medical Genetics. Part A|February 10, 2018
Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disabilityWenmiao Zhu, Jianli Li, Stella Chen, et al.
Cold Spring Harbor Molecular Case Studies|November 28, 2022
Characterization of a novel deep-intronic variant in <i>DYNC2H1</i> identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type IIIMuqsit Buchh, Patrick J Gillespie, Kayla Treat, et al.
Neurology|May 5, 2021
Familial Autonomic Ganglionopathy Caused by Rare <i>CHRNA3</i> Genetic VariantsCyndya A Shibao, Karen Joos, John A Phillips, et al.
EMBO Molecular Medicine|February 6, 2013
Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiencyNunzia Pastore, Keith Blomenkamp, Fabio Annunziata, et al.
Blood Advances|October 15, 2025
Diagnostic sequencing identifies high-risk markers and mechanisms of resistance to guide immunotherapy selectionParvathi Sudha, Phillip Pham, Wen Niu, et al.
Pageof 6

Showing results (21-30 of 57) with videos related to

Sort By:
Pageof 6
Molecular Therapy : the Journal of the American Society of Gene Therapy|October 21, 2010
Modifications of adenovirus hexon allow for either hepatocyte detargeting or targeting with potential evasion from Kupffer cellsJan-Michael Prill, Sigrid Espenlaub, Ulrike Samen, et al.
The Journal of Molecular Diagnostics : JMD|May 21, 2021
Characterization of Reference Materials with an Association for Molecular Pathology Pharmacogenetics Working Group Tier 2 Status: CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, and GGCX: A GeT-RM Collaborative ProjectVictoria M Pratt, Amy Turner, Ulrich Broeckel, et al.
The EMBO Journal|February 21, 2012
A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEBCarmine Settembre, Roberto Zoncu, Diego L Medina, et al.
Science (New York, N.Y.)|May 28, 2011
TFEB links autophagy to lysosomal biogenesisCarmine Settembre, Chiara Di Malta, Vinicia Assunta Polito, et al.
American Journal of Medical Genetics. Part A|September 13, 2019
An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3Valerie J Castelluccio, Francesco Vetrini, Ty Lynnes, et al.
American Journal of Medical Genetics. Part A|February 10, 2018
Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disabilityWenmiao Zhu, Jianli Li, Stella Chen, et al.
Cold Spring Harbor Molecular Case Studies|November 28, 2022
Characterization of a novel deep-intronic variant in <i>DYNC2H1</i> identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type IIIMuqsit Buchh, Patrick J Gillespie, Kayla Treat, et al.
Neurology|May 5, 2021
Familial Autonomic Ganglionopathy Caused by Rare <i>CHRNA3</i> Genetic VariantsCyndya A Shibao, Karen Joos, John A Phillips, et al.
EMBO Molecular Medicine|February 6, 2013
Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiencyNunzia Pastore, Keith Blomenkamp, Fabio Annunziata, et al.
Blood Advances|October 15, 2025
Diagnostic sequencing identifies high-risk markers and mechanisms of resistance to guide immunotherapy selectionParvathi Sudha, Phillip Pham, Wen Niu, et al.
Pageof 6