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Lorenzo Sinibaldi

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

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Human Mutation|May 18, 2004
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1Alessandro De Luca, Annalisa Schirinzi, Anna Buccino, et al.
Brain Sciences|November 10, 2019
Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG syndromePaolo Alfieri, Francesco Demaria, Serena Licchelli, et al.
European Journal of Human Genetics : EJHG|January 19, 2022
Osteopathia striata with cranial sclerosis: a new case supporting the link with bilateral Wilms tumorLorenzo Sinibaldi, Alessia Micalizzi, Annalisa Serra, et al.
Pediatrics and Neonatology|December 13, 2025
Cohen syndrome and neutropenia: Unveiling a novel VPS13B variant and literature reviewGioacchino Andrea Rotulo, Lorenzo Sinibaldi, Elisa Profeti, et al.
Journal of Human Genetics|May 17, 2022
Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed caseAnnalisa Paparella, Gabriella Maria Squeo, Eleonora Di Venere, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|April 14, 2006
Additive effects of genetic variation in dopamine regulating genes on working memory cortical activity in human brainAlessandro Bertolino, Giuseppe Blasi, Valeria Latorre, et al.
American Journal of Medical Genetics. Part A|April 25, 2025
Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B-Related Disorders: Case Series and Review of the LiteratureVittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, et al.
Frontiers in Medicine|March 28, 2025
Case report: Clinical and genetic features of pediatric choroidal melanomaPaola Valente, Angela Galardi, Angela Di Giannatale, et al.
Epilepsy & Behavior : E&B|September 17, 2023
Refining of the electroclinical phenotype in familial and sporadic cases of CSNK2B-related Neurodevelopmental SyndromeMarina Trivisano, Angela De Dominicis, Fabrizia Stregapede, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 29, 2010
DRD2/AKT1 interaction on D2 c-AMP independent signaling, attentional processing, and response to olanzapine treatment in schizophreniaGiuseppe Blasi, Francesco Napolitano, Gianluca Ursini, et al.
Pageof 6

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

Sort By:
Pageof 6
Human Mutation|May 18, 2004
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1Alessandro De Luca, Annalisa Schirinzi, Anna Buccino, et al.
Brain Sciences|November 10, 2019
Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG syndromePaolo Alfieri, Francesco Demaria, Serena Licchelli, et al.
European Journal of Human Genetics : EJHG|January 19, 2022
Osteopathia striata with cranial sclerosis: a new case supporting the link with bilateral Wilms tumorLorenzo Sinibaldi, Alessia Micalizzi, Annalisa Serra, et al.
Pediatrics and Neonatology|December 13, 2025
Cohen syndrome and neutropenia: Unveiling a novel VPS13B variant and literature reviewGioacchino Andrea Rotulo, Lorenzo Sinibaldi, Elisa Profeti, et al.
Journal of Human Genetics|May 17, 2022
Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed caseAnnalisa Paparella, Gabriella Maria Squeo, Eleonora Di Venere, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|April 14, 2006
Additive effects of genetic variation in dopamine regulating genes on working memory cortical activity in human brainAlessandro Bertolino, Giuseppe Blasi, Valeria Latorre, et al.
American Journal of Medical Genetics. Part A|April 25, 2025
Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B-Related Disorders: Case Series and Review of the LiteratureVittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, et al.
Frontiers in Medicine|March 28, 2025
Case report: Clinical and genetic features of pediatric choroidal melanomaPaola Valente, Angela Galardi, Angela Di Giannatale, et al.
Epilepsy & Behavior : E&B|September 17, 2023
Refining of the electroclinical phenotype in familial and sporadic cases of CSNK2B-related Neurodevelopmental SyndromeMarina Trivisano, Angela De Dominicis, Fabrizia Stregapede, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 29, 2010
DRD2/AKT1 interaction on D2 c-AMP independent signaling, attentional processing, and response to olanzapine treatment in schizophreniaGiuseppe Blasi, Francesco Napolitano, Gianluca Ursini, et al.
Pageof 6