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International Journal of Neonatal Screening|July 27, 2022
Newborn Screening by Genomic Sequencing: Opportunities and ChallengesDavid Bick, Arzoo Ahmed, Dasha Deen, et al.Journal of Cellular Physiology|November 22, 2012
Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophyCamilla Pellegrini, Alessandra Zulian, Francesca Gualandi, et al.Public Health Genomics|July 14, 2026
What is at stake in genetic newborn screening for rare diseases? - An exploratory qualitative study of parents' and expectant parents' concerns in the Screen4Care projectSylvia Martin, Åsa Grauman, Joshua Coulter, et al.Journal of Cardiovascular Magnetic Resonance : Official Journal of the Society for Cardiovascular Magnetic Resonance|July 11, 2014
Patterns of late gadolinium enhancement in Duchenne muscular dystrophy carriersVincenzo Giglio, Paolo Emilio Puddu, Giovanni Camastra, et al.Journal of Cardiovascular Development and Disease|September 26, 2021
Left Ventricular Myocardial Noncompaction with Advanced Atrioventricular Conduction Disorder and Ventricular Arrhythmias in a Young Patient: Role of MIB1 GeneCristina Balla, Martina De Raffele, Maria Angela Deserio, et al.BMC Medical Genetics|March 23, 2010
Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathiesMatteo Bovolenta, Marcella Neri, Elena Martoni, et al.Proceedings of the National Academy of Sciences of the United States of America|January 12, 2007
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporinsAlessia Angelin, Tania Tiepolo, Patrizia Sabatelli, et al.Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|May 22, 2015
Atrial fibrillation in amyloidotic cardiomyopathy: prevalence, incidence, risk factors and prognostic roleSimone Longhi, Candida Cristina Quarta, Agnese Milandri, et al.Plos One|October 3, 2012
The DMD locus harbours multiple long non-coding RNAs which orchestrate and control transcription of muscle dystrophin mRNA isoformsMatteo Bovolenta, Daniela Erriquez, Emanuele Valli, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 2, 2017
Somatic mosaicism represents an underestimated event underlying collagen 6-related disordersAdele D'Amico, Fabiana Fattori, Giorgio Tasca, et al.Pageof 19