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Stefania Petrini

Showing results (101-110 of 110) with videos related to

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Brain : a Journal of Neurology|May 8, 2021
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafnessAntonella Sferra, Paola Fortugno, Marialetizia Motta, et al.
Human Mutation|February 26, 2019
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathyDaniela Verrigni, Michela Di Nottia, Anna Ardissone, et al.
Frontiers in Oncology|May 16, 2022
MET Inhibition Sensitizes Rhabdomyosarcoma Cells to NOTCH Signaling SuppressionClara Perrone, Silvia Pomella, Matteo Cassandri, et al.
European Journal of Human Genetics : EJHG|January 8, 2026
Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformationsValentina Muto, Giulia Fasano, Francesca Clementina Radio, et al.
The EMBO Journal|May 1, 2021
TFG binds LC3C to regulate ULK1 localization and autophagosome formationMarianna Carinci, Beatrice Testa, Matteo Bordi, et al.
Brain : a Journal of Neurology|June 26, 2026
GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorderPinella Failla, Valentina Muto, Antonella Lauri, et al.
American Journal of Human Genetics|October 9, 2021
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotypeMarialetizia Motta, Giulia Fasano, Sina Gredy, et al.
Nature Communications|November 11, 2022
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafishGiulia Fasano, Valentina Muto, Francesca Clementina Radio, et al.
Orphanet Journal of Rare Diseases|June 14, 2012
The empowerment of translational research: lessons from laminopathiesSara Benedetti, Pia Bernasconi, Enrico Bertini, et al.
American Journal of Human Genetics|December 14, 2020
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signalingYuh-Charn Lin, Marcello Niceta, Valentina Muto, et al.
Pageof 11

Showing results (101-110 of 110) with videos related to

Sort By:
Pageof 11
You have reached the last page of results.This site can display upto 110 results.
Brain : a Journal of Neurology|May 8, 2021
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafnessAntonella Sferra, Paola Fortugno, Marialetizia Motta, et al.
Human Mutation|February 26, 2019
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathyDaniela Verrigni, Michela Di Nottia, Anna Ardissone, et al.
Frontiers in Oncology|May 16, 2022
MET Inhibition Sensitizes Rhabdomyosarcoma Cells to NOTCH Signaling SuppressionClara Perrone, Silvia Pomella, Matteo Cassandri, et al.
European Journal of Human Genetics : EJHG|January 8, 2026
Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformationsValentina Muto, Giulia Fasano, Francesca Clementina Radio, et al.
The EMBO Journal|May 1, 2021
TFG binds LC3C to regulate ULK1 localization and autophagosome formationMarianna Carinci, Beatrice Testa, Matteo Bordi, et al.
Brain : a Journal of Neurology|June 26, 2026
GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorderPinella Failla, Valentina Muto, Antonella Lauri, et al.
American Journal of Human Genetics|October 9, 2021
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotypeMarialetizia Motta, Giulia Fasano, Sina Gredy, et al.
Nature Communications|November 11, 2022
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafishGiulia Fasano, Valentina Muto, Francesca Clementina Radio, et al.
Orphanet Journal of Rare Diseases|June 14, 2012
The empowerment of translational research: lessons from laminopathiesSara Benedetti, Pia Bernasconi, Enrico Bertini, et al.
American Journal of Human Genetics|December 14, 2020
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signalingYuh-Charn Lin, Marcello Niceta, Valentina Muto, et al.
Pageof 11