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European Journal of Human Genetics : EJHG|June 22, 2017
Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosisAndrea Iorio, Antonella De Lillo, Flavio De Angelis, et al.
Journal of Clinical Medicine|February 27, 2026
CPAP Treatment Exposure, but Not Daytime Sleepiness or Neurofilament Light Chain, Is Associated with Cognitive Performance in Obstructive Sleep ApneaSofia Tagini, Stefania Cattaldo, Federica Scarpina, et al.
American Journal of Medical Genetics. Part A|January 13, 2022
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defectsGerarda Cappuccio, Nicola Brunetti-Pierri, Paul Clift, et al.
Scientific Reports|May 10, 2018
Hyperactivity of Rac1-GTPase pathway impairs neuritogenesis of cortical neurons by altering actin dynamicsValentina Zamboni, Maria Armentano, Gaia Berto, et al.
Journal of Clinical Medicine|September 28, 2024
Behavioral Alterations of Spatial Cognition and Role of the Apolipoprotein E-ε4 in Patients with MCI Due to Alzheimer's Disease: Results from the BDSC-MCI ProjectDavide Maria Cammisuli, Virginia Bellocchio, Alessandra Milesi, et al.
Orphanet Journal of Rare Diseases|April 8, 2021
Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in ItalyLorenza Magliano, Laura Obici, Claudia Sforzini, et al.
International Journal of Cancer|January 8, 2019
Insight into genetic susceptibility to male breast cancer by multigene panel testing: Results from a multicenter study in ItalyPiera Rizzolo, Veronica Zelli, Valentina Silvestri, et al.
Cell Reports|February 16, 2017
Citron Kinase Deficiency Leads to Chromosomal Instability and TP53-Sensitive MicrocephalyFederico Tommaso Bianchi, Chiara Tocco, Gianmarco Pallavicini, et al.
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