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Pinella Failla

Showing results (11-20 of 24) with videos related to

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International Journal of Molecular Sciences|August 14, 2025
<i>ZNF496</i> as Candidate Gene for Neurodevelopmental Disorders: Identification of a Pathogenic De Novo Frameshift VariantFrancesco Calì, Miriam Virgillito, Simone Treccarichi, et al.
Clinical Chemistry|November 25, 2005
Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assayMichele Falco, Corrado Romano, Antonino Alberti, et al.
Genes|March 28, 2024
<i>UNC5C</i>: Novel Gene Associated with Psychiatric Disorders Impacts Dysregulation of Axon Guidance PathwaysSimone Treccarichi, Pinella Failla, Mirella Vinci, et al.
Medicina (Kaunas, Lithuania)|April 26, 2025
Investigating the Role of the Zinc Finger Protein ZC2HC1C on Autism Spectrum Disorder SusceptibilitySimone Treccarichi, Mirella Vinci, Antonino Musumeci, et al.
Human Genetics|January 19, 2019
Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophyMarco Fichera, Pinella Failla, Lucia Saccuzzo, et al.
Journal of Human Genetics|October 23, 2015
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disabilityLaura Bianciardi, Marco Fichera, Pinella Failla, et al.
European Journal of Medical Genetics|November 14, 2016
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platformFrancesco Calì, Valeria Chiavetta, Giuseppa Ruggeri, 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 Medical Genetics. Part A|October 1, 2015
Recurrent duplications of 17q12 associated with variable phenotypesElyse Mitchell, Andrew Douglas, Susanne Kjaegaard, et al.
American Journal of Human Genetics|September 1, 2009
Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and femalesRoberto Giorda, M Clara Bonaglia, Silvana Beri, et al.
Pageof 3

Showing results (11-20 of 24) with videos related to

Sort By:
Pageof 3
International Journal of Molecular Sciences|August 14, 2025
<i>ZNF496</i> as Candidate Gene for Neurodevelopmental Disorders: Identification of a Pathogenic De Novo Frameshift VariantFrancesco Calì, Miriam Virgillito, Simone Treccarichi, et al.
Clinical Chemistry|November 25, 2005
Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assayMichele Falco, Corrado Romano, Antonino Alberti, et al.
Genes|March 28, 2024
<i>UNC5C</i>: Novel Gene Associated with Psychiatric Disorders Impacts Dysregulation of Axon Guidance PathwaysSimone Treccarichi, Pinella Failla, Mirella Vinci, et al.
Medicina (Kaunas, Lithuania)|April 26, 2025
Investigating the Role of the Zinc Finger Protein ZC2HC1C on Autism Spectrum Disorder SusceptibilitySimone Treccarichi, Mirella Vinci, Antonino Musumeci, et al.
Human Genetics|January 19, 2019
Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophyMarco Fichera, Pinella Failla, Lucia Saccuzzo, et al.
Journal of Human Genetics|October 23, 2015
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disabilityLaura Bianciardi, Marco Fichera, Pinella Failla, et al.
European Journal of Medical Genetics|November 14, 2016
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platformFrancesco Calì, Valeria Chiavetta, Giuseppa Ruggeri, 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 Medical Genetics. Part A|October 1, 2015
Recurrent duplications of 17q12 associated with variable phenotypesElyse Mitchell, Andrew Douglas, Susanne Kjaegaard, et al.
American Journal of Human Genetics|September 1, 2009
Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and femalesRoberto Giorda, M Clara Bonaglia, Silvana Beri, et al.
Pageof 3