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Journal of Human Genetics|August 5, 2011
p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastomaMaria Carmela Epistolato, Vittoria Disciglio, Gabriella Livide, et al.Human Genetics|April 6, 2002
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 geneMarco Seri, Maria Savino, Domenico Bordo, et al.Human Mutation|November 4, 2017
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport SyndromeSergio Daga, Margherita Baldassarri, Caterina Lo Rizzo, et al.European Journal of Human Genetics : EJHG|April 18, 2018
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastomaValentina Imperatore, Anna Maria Pinto, Elisa Gelli, et al.Vascular|June 27, 2020
A pilot study of next generation sequencing-liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel-Trenaunay syndromeMaria Palmieri, Anna Maria Pinto, Laura di Blasio, et al.Scientific Reports|May 10, 2020
Assessment of haptoglobin alleles in autism spectrum disordersFrancesca Anna Cupaioli, Ettore Mosca, Chiara Magri, et al.Clinical Genetics|November 19, 2016
Alport syndrome: impact of digenic inheritance in patients managementC Fallerini, M Baldassarri, E Trevisson, et al.International Journal of Molecular Sciences|July 27, 2024
Pharmacotherapeutic Considerations on Telomere Biology: The Positive Effect of Pharmacologically Active Substances on Telomere LengthMiruna-Maria Apetroaei, Persefoni Fragkiadaki, Bruno Ștefan Velescu, et al.European Journal of Human Genetics : EJHG|November 23, 2019
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cellsSergio Daga, Francesco Donati, Katia Capitani, et al.Pediatric Nephrology (Berlin, Germany)|July 11, 2018
Expert consensus guidelines for the genetic diagnosis of Alport syndromeJudy Savige, Francesca Ariani, Francesca Mari, et al.Pageof 63