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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.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.Journal of Human Genetics|April 30, 2025
Variant sub-tiering, disease-gene associations and strictness of clinical criteria improves the interpretation of variants of uncertain significance in hereditary cardiomyopathies and rhythm disordersMarco Castori, Sandra Mastroianno, Andrea Fontana, et al.Brain Communications|April 2, 2026
Neurological manifestations and genotype-phenotype correlations in NDUFAF6-associated mitochondrial diseaseAlessandra Torraco, Charlotte L Alston, Giulia Barcia, 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.Seizure|April 8, 2021
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European studyFederico Raviglione, Sofia Douzgou, Marcello Scala, et al.Pageof 6