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Valentina Muto

Showing results (11-20 of 18) with videos related to

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Clinical Genetics|April 9, 2022
SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interactionManuela Priolo, Valentina Palermo, Francesca Aiello, 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.
Nature Genetics|July 15, 2014
Mutations in ZBTB20 cause Primrose syndromeViviana Cordeddu, Bert Redeker, Emilia Stellacci, et al.
American Journal of Medical Genetics. Part A|June 18, 2016
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotypeLeonie A Menke, Martine J van Belzen, Marielle Alders, 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.
Neurology|July 1, 2018
Biallelic <i>SQSTM1</i> mutations in early-onset, variably progressive neurodegenerationValentina Muto, Elisabetta Flex, Zachary Kupchinsky, 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.
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 2

Showing results (11-20 of 18) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 18 results.
Clinical Genetics|April 9, 2022
SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interactionManuela Priolo, Valentina Palermo, Francesca Aiello, 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.
Nature Genetics|July 15, 2014
Mutations in ZBTB20 cause Primrose syndromeViviana Cordeddu, Bert Redeker, Emilia Stellacci, et al.
American Journal of Medical Genetics. Part A|June 18, 2016
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotypeLeonie A Menke, Martine J van Belzen, Marielle Alders, 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.
Neurology|July 1, 2018
Biallelic <i>SQSTM1</i> mutations in early-onset, variably progressive neurodegenerationValentina Muto, Elisabetta Flex, Zachary Kupchinsky, 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.
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 2