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Clinical Genetics|April 9, 2022
SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interactionManuela Priolo, Valentina Palermo, Francesca Aiello, 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.International Journal of Molecular Sciences|September 14, 2024
Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase DeficiencyStefania Martino, Pietro D'Addabbo, Antonella Turchiano, 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.Life Science Alliance|January 27, 2019
Mitochondrial stress response triggered by defects in protein synthesis quality controlUwe Richter, Kah Ying Ng, Fumi Suomi, 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.Human Mutation|August 21, 2010
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxiasClaudia Cagnoli, Giovanni Stevanin, Alessandro Brussino, 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.Genes|July 29, 2025
Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide DeficiencyDavide Politano, Cecilia Mancini, Massimiliano Celario, et al.Pageof 8