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American Journal of Medical Genetics. Part A|January 14, 2021
Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotypeMaria Giovanna Tedesco, Fortunato Lonardo, Caterina Ceccarini, et al.Diagnostics (Basel, Switzerland)|June 26, 2026
Multisystemic Assessment in Andersen-Tawil Syndrome: Report of Eighteen IndividualsMaria Gnazzo, Giovanni Parlapiano, Silvia Morlino, et al.Cells|April 13, 2026
Modulation of L-Type Calcium Currents by Resveratrol-Induced Myogenesis in C2C12 CellsAndrea Biagini, Luana Sallicandro, Jasmine Covarelli, et al.Epilepsia|December 18, 2025
Neuronal hyperexcitability: A key to unraveling hippocampal synaptic dysfunction in Lafora diseaseCinzia Costa, Laura Bellingacci, Jacopo Canonichesi, et al.Journal of Cellular and Molecular Medicine|March 19, 2015
Stem cells from human amniotic fluid exert immunoregulatory function via secreted indoleamine 2,3-dioxygenase1Rita Romani, Irene Pirisinu, Mario Calvitti, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathiesJennifer Kerkhof, Gabriella Maria Squeo, Haley McConkey, et al.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.Human Genetics|March 26, 2015
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoireDaniela Rusconi, Gloria Negri, Patrizia Colapietro, et al.Clinical Epigenetics|March 3, 2016
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromesSilvia Russo, Luciano Calzari, Alessandro Mussa, et al.American Journal of Medical Genetics. Part A|July 24, 2012
Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotypeJudith Allanson, Amanda Smith, Heather Hare, et al.Pageof 12