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Scientific Reports|February 22, 2020
An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArrayElena Bacchelli, Cinzia Cameli, Marta Viggiano, et al.
International Journal of Molecular Sciences|December 10, 2021
Targeting Oncogenic Transcriptional Networks in Neuroblastoma: From N-Myc to Epigenetic DrugsRoberto Ciaccio, Piergiuseppe De Rosa, Sara Aloisi, et al.
Frontiers in Psychiatry|March 30, 2022
Contribution of CACNA1H Variants in Autism Spectrum Disorder SusceptibilityMarta Viggiano, Tiziano D'Andrea, Cinzia Cameli, et al.
Research Square|November 14, 2023
Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum DisorderElena Bacchelli, Marta Viggiano, Fabiola Ceroni, et al.
NPJ Genomic Medicine|March 23, 2024
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidatesMarta Viggiano, Fabiola Ceroni, Paola Visconti, et al.
Journal of Cellular and Molecular Medicine|January 21, 2021
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorderCinzia Cameli, Marta Viggiano, Magali J Rochat, et al.
Frontiers in Genetics|November 24, 2022
Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorderLeonardo Caporali, Claudio Fiorini, Flavia Palombo, et al.
Clinical Genetics|April 9, 2026
Comprehensive Assessment of the KDM2B-Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion SyndromeAmber S E van Oirsouw, Tzung-Chien Hsieh, Martijn Koetsier, et al.
European Journal of Human Genetics : EJHG|July 27, 2026
Further characterization of the BRSK2-associated neurodevelopmental disorderPalak Singhal, Tzung-Chien Hsieh, Nadja Ehmke, et al.
American Journal of Human Genetics|July 16, 2024
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromesDmitrijs Rots, Sanaa Choufani, Victor Faundes, et al.
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