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M Castori

Showing results (21-30 of 31) with videos related to

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Journal of Medical Genetics|February 4, 2005
NPHP1 gene deletion is a rare cause of Joubert syndrome related disordersM Castori, E M Valente, M A Donati, et al.
Clinical Genetics|May 10, 2017
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patientsM Colombi, C Dordoni, M Venturini, et al.
Clinical Genetics|February 22, 2013
Novel mutations of the PRKAR1A gene in patients with acrodysostosisF Muhn, E Klopocki, L Graul-Neumann, et al.
Frontiers in Genetics|August 29, 2025
Case Report: Unmasking the role of rem sleep in modulating non-convulsive status epilepticus in ring chromosome 20 syndrome: a genetic disorder of sleep architecture?Filippo Mandato, Maria Teresa Di Claudio, Umberto Costantino, et al.
European Journal of Pain (London, England)|February 27, 2016
Central sensitization as the mechanism underlying pain in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility typeG Di Stefano, C Celletti, R Baron, et al.
Clinical Genetics|February 6, 2010
Novel and recurrent p14 mutations in Italian familial melanomaF Binni, I Antigoni, P De Simone, et al.
Clinical Genetics|April 8, 2017
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutationsM Ritelli, S Morlino, E Giacopuzzi, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|April 18, 2003
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystoniaF Brancati, E M Valente, M Castori, et al.
European Journal of Human Genetics : EJHG|March 17, 2011
Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG)C M Laine, B D Chung, M Susic, et al.
Human Genetics|December 5, 2022
Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease-gene associationM Cesana, L Vaccaro, M J Larsen, et al.
Pageof 4

Showing results (21-30 of 31) with videos related to

Sort By:
Pageof 4
Journal of Medical Genetics|February 4, 2005
NPHP1 gene deletion is a rare cause of Joubert syndrome related disordersM Castori, E M Valente, M A Donati, et al.
Clinical Genetics|May 10, 2017
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patientsM Colombi, C Dordoni, M Venturini, et al.
Clinical Genetics|February 22, 2013
Novel mutations of the PRKAR1A gene in patients with acrodysostosisF Muhn, E Klopocki, L Graul-Neumann, et al.
Frontiers in Genetics|August 29, 2025
Case Report: Unmasking the role of rem sleep in modulating non-convulsive status epilepticus in ring chromosome 20 syndrome: a genetic disorder of sleep architecture?Filippo Mandato, Maria Teresa Di Claudio, Umberto Costantino, et al.
European Journal of Pain (London, England)|February 27, 2016
Central sensitization as the mechanism underlying pain in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility typeG Di Stefano, C Celletti, R Baron, et al.
Clinical Genetics|February 6, 2010
Novel and recurrent p14 mutations in Italian familial melanomaF Binni, I Antigoni, P De Simone, et al.
Clinical Genetics|April 8, 2017
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutationsM Ritelli, S Morlino, E Giacopuzzi, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|April 18, 2003
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystoniaF Brancati, E M Valente, M Castori, et al.
European Journal of Human Genetics : EJHG|March 17, 2011
Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG)C M Laine, B D Chung, M Susic, et al.
Human Genetics|December 5, 2022
Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease-gene associationM Cesana, L Vaccaro, M J Larsen, et al.
Pageof 4