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The Journal of Pediatrics|May 19, 2009
The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemiaOrnella Guardamagna, Gabriella Restagno, Elio Rolfo, et al.JAMA Neurology|July 16, 2014
Genome-wide analysis of the heritability of amyotrophic lateral sclerosisMargaux F Keller, Luigi Ferrucci, Andrew B Singleton, et al.Human Mutation|September 27, 2002
Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing lossAlessandro Ferraris, Eric Rappaport, Rosa Santacroce, et al.Human Genetics|May 21, 2005
Fetal DNA detection in maternal plasma throughout gestationSilvia Galbiati, Maddalena Smid, Dania Gambini, et al.Journal of Neurology, Neurosurgery, and Psychiatry|April 29, 2014
Cognitive correlates in amyotrophic lateral sclerosis: a population-based study in ItalyAnna Montuschi, Barbara Iazzolino, Andrea Calvo, et al.Neurobiology of Aging|August 28, 2012
UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based studyAdriano Chiò, Gabriele Mora, Gabriella Restagno, et al.European Journal of Medical Genetics|February 5, 2017
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13qFabio Sirchia, Eleonora Di Gregorio, Gabriella Restagno, et al.Neurobiology of Aging|May 11, 2012
Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosisYevgeniya Abramzon, Janel O Johnson, Sonja W Scholz, et al.Journal of Neurology|September 3, 2014
NADPH oxidase (NOX2) activity is a modifier of survival in ALSGiuseppe Marrali, Federico Casale, Paolina Salamone, et al.Reproductive Biomedicine Online|March 27, 2019
Inferring biallelism of two FSH receptor mutations associated with spontaneous ovarian hyperstimulation syndrome by evaluating FSH, LH and HCG cross-activityClara Lazzaretti, Laura Riccetti, Samantha Sperduti, et al.Pageof 7