Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Alessandro Ferraris

Showing results (31-40 of 52) with videos related to

Pageof 6
Sort By:
Clinical Chemistry|November 26, 2002
Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technologyRosa Santacroce, Antonia Ratti, Francesco Caroli, et al.
Neurogenetics|April 13, 2011
FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletionGinevra Zanni, Sabina Barresi, Lorena Travaglini, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 13, 2009
Mutation screening of the DYT6/THAP1 gene in ItalyMonica Bonetti, Chiara Barzaghi, Francesco Brancati, et al.
Orphanet Journal of Rare Diseases|May 18, 2013
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletionsAlessandro Ferraris, Laura Bernardini, Vesna Sabolic Avramovska, et al.
Clinical Genetics|December 4, 2019
COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlapSilvia Morlino, Lucia Micale, Marco Ritelli, et al.
Clinical and Experimental Rheumatology|May 19, 2022
Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reportsMarlies Colman, Marco Castori, Lucia Micale, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvementLucia Micale, Silvia Morlino, Annalucia Carbone, et al.
European Radiology|July 6, 2017
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformationRomina Romaniello, Filippo Arrigoni, Elena Panzeri, et al.
European Radiology|September 14, 2017
Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformationRomina Romaniello, Filippo Arrigoni, Elena Panzeri, et al.
Annals of Neurology|January 10, 2002
PARK6-linked parkinsonism occurs in several European familiesEnza Maria Valente, Francesco Brancati, Alessandro Ferraris, et al.
Pageof 6

Showing results (31-40 of 52) with videos related to

Sort By:
Pageof 6
Clinical Chemistry|November 26, 2002
Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technologyRosa Santacroce, Antonia Ratti, Francesco Caroli, et al.
Neurogenetics|April 13, 2011
FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletionGinevra Zanni, Sabina Barresi, Lorena Travaglini, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 13, 2009
Mutation screening of the DYT6/THAP1 gene in ItalyMonica Bonetti, Chiara Barzaghi, Francesco Brancati, et al.
Orphanet Journal of Rare Diseases|May 18, 2013
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletionsAlessandro Ferraris, Laura Bernardini, Vesna Sabolic Avramovska, et al.
Clinical Genetics|December 4, 2019
COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlapSilvia Morlino, Lucia Micale, Marco Ritelli, et al.
Clinical and Experimental Rheumatology|May 19, 2022
Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reportsMarlies Colman, Marco Castori, Lucia Micale, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvementLucia Micale, Silvia Morlino, Annalucia Carbone, et al.
European Radiology|July 6, 2017
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformationRomina Romaniello, Filippo Arrigoni, Elena Panzeri, et al.
European Radiology|September 14, 2017
Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformationRomina Romaniello, Filippo Arrigoni, Elena Panzeri, et al.
Annals of Neurology|January 10, 2002
PARK6-linked parkinsonism occurs in several European familiesEnza Maria Valente, Francesco Brancati, Alessandro Ferraris, et al.
Pageof 6