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Human Molecular Genetics|February 22, 2015
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)Elisa Giorgio, Daniel Robyr, Malte Spielmann, et al.American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|December 2, 2015
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesityElisa Biamino, Eleonora Di Gregorio, Elga Fabia Belligni, et al.Journal of Neurology|November 1, 2014
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutationsCecilia Mancini, Stefano Nassani, Yiran Guo, et al.Cytogenetic and Genome Research|December 15, 2015
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/DuplicationsEleonora Di Gregorio, Giorgia Gai, Giovanni Botta, et al.The Journal of Molecular Diagnostics : JMD|February 21, 2018
Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary ElectrophoresisClaudia Cagnoli, Alessandro Brussino, Cecilia Mancini, et al.Annals of Neurology|October 5, 2017
Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38Marta Manes, Antonella Alberici, Eleonora Di Gregorio, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 29, 2016
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypesElisa Giorgio, Alessandro Brussino, Elisa Biamino, et al.Human Genetics|May 18, 2023
Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspotEnza Ferrero, Eleonora Di Gregorio, Marta Ferrero, et al.Molecular Cytogenetics|December 2, 2014
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGHEleonora Di Gregorio, Elisa Savin, Elisa Biamino, et al.BMC Medical Genetics|May 1, 2015
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2Cecilia Mancini, Laura Orsi, Yiran Guo, et al.Pageof 4