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

Lucia Micale

Showing results (61-70 of 72) with videos related to

Pageof 8
Sort By:
Nature Genetics|December 16, 2014
7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineagesAntonio Adamo, Sina Atashpaz, Pierre-Luc Germain, 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.
Human Molecular Genetics|February 27, 2019
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variantsCarmela Fusco, Grazia Nardella, Rita Fischetto, 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.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|May 9, 2025
Multi-OMICs analysis on tridimensional fibroblast spheroids to model vascular Ehlers-Danlos syndrome pathogenesisLucia Micale, Ester Di Muro, Rossella De Cegli, et al.
European Journal of Human Genetics : EJHG|January 4, 2023
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndromeFrancesca Piceci-Sparascio, Lucia Micale, Barbara Torres, et al.
Human Genetics|April 20, 2023
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobilityMaria Pia Leone, Silvia Morlino, Grazia Nardella, et al.
Human Mutation|March 18, 2014
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patientsLucia Micale, Bartolomeo Augello, Claudia Maffeo, et al.
Orphanet Journal of Rare Diseases|June 11, 2011
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patientsLucia Micale, Bartolomeo Augello, Carmela Fusco, et al.
Pageof 8

Showing results (61-70 of 72) with videos related to

Sort By:
Pageof 8
Nature Genetics|December 16, 2014
7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineagesAntonio Adamo, Sina Atashpaz, Pierre-Luc Germain, 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.
Human Molecular Genetics|February 27, 2019
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variantsCarmela Fusco, Grazia Nardella, Rita Fischetto, 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.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|May 9, 2025
Multi-OMICs analysis on tridimensional fibroblast spheroids to model vascular Ehlers-Danlos syndrome pathogenesisLucia Micale, Ester Di Muro, Rossella De Cegli, et al.
European Journal of Human Genetics : EJHG|January 4, 2023
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndromeFrancesca Piceci-Sparascio, Lucia Micale, Barbara Torres, et al.
Human Genetics|April 20, 2023
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobilityMaria Pia Leone, Silvia Morlino, Grazia Nardella, et al.
Human Mutation|March 18, 2014
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patientsLucia Micale, Bartolomeo Augello, Claudia Maffeo, et al.
Orphanet Journal of Rare Diseases|June 11, 2011
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patientsLucia Micale, Bartolomeo Augello, Carmela Fusco, et al.
Pageof 8