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European Journal of Human Genetics : EJHG|June 4, 2025
Constitutional copy number amplifications: rare or under-evaluated? Revisiting a 25-year-old cold caseEliana Salvo, Romano Tenconi, Roberto Giorda, et al.
European Journal of Human Genetics : EJHG|January 22, 2009
Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndromeLaura Giunti, Valentina Cetica, Ugo Ricci, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|July 15, 2021
Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practiceNine Knoers, Corinne Antignac, Carsten Bergmann, et al.
American Journal of Cancer Research|January 3, 2017
Molecular characterization of paediatric glioneuronal tumours with neuropil-like islands: a genome-wide copy number analysisLaura Giunti, Anna Maria Buccoliero, Marilena Pantaleo, et al.
European Journal of Human Genetics : EJHG|January 27, 2019
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneityElena Cellini, Annalisa Vetro, Valerio Conti, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|June 22, 2016
Next generation sequencing and functional analysis of patient urine renal progenitor-derived podocytes to unravel the diagnosis underlying refractory lupus nephritisPaola Romagnani, Sabrina Giglio, Maria Lucia Angelotti, et al.
Pediatric Neurosurgery|July 28, 2021
Exclusive Neurogenic Bladder and Fecal Incontinency in an Achondroplasic Child Successfully Treated with Lumbar Foraminal DecompressionFlavio Giordano, Matteo Lenge, Pierarturo Donati, et al.
European Journal of Human Genetics : EJHG|July 22, 2004
Inverted duplications: how many of them are mosaic?Tiziano Pramparo, Sabrina Giglio, Giuliana Gregato, et al.
Frontiers in Immunology|August 4, 2026
MICA-129Met/Val as a therapeutic compass in idiopathic pulmonary fibrosis: prognosis and antifibrotic benefitStefano Mocci, Caterina Mereu, Roberto Littera, et al.
Journal of Pediatric Genetics|December 1, 2021
Correlating Neuroimaging and CNVs Data: 7 Years of Cytogenomic Microarray Analysis on Patients Affected by Neurodevelopmental DisordersRoberta Milone, Claudia Cesario, Marina Goldoni, et al.
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