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Nature Communications|November 3, 2022
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome XElsa Leitão, Christopher Schröder, Ilaria Parenti, et al.Clinical Genetics|May 6, 2021
ANKRD11 variants: KBG syndrome and beyondIlaria Parenti, Mark B Mallozzi, Irina Hüning, et al.Nature|August 14, 2012
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycleMatthew A Deardorff, Masashige Bando, Ryuichiro Nakato, et al.Nature|November 12, 2013
Dysfunctional nitric oxide signalling increases risk of myocardial infarctionJeanette Erdmann, Klaus Stark, Ulrike B Esslinger, et al.American Journal of Medical Genetics. Part A|May 27, 2017
Phenotypes and genotypes in individuals with SMC1A variantsSylvia Huisman, Paul A Mulder, Egbert Redeker, et al.The Journal of Clinical Investigation|September 18, 2025
Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse developmentXiaoxia Peng, Xiangbin Jia, Hanying Wang, et al.Nature Reviews. Genetics|July 12, 2018
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statementAntonie D Kline, Joanna F Moss, Angelo Selicorni, et al.Human Genetics|May 4, 2021
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsyIlaria Parenti, Daphné Lehalle, Caroline Nava, et al.Frontiers in Cell and Developmental Biology|December 26, 2022
The different clinical facets of <i>SYN1</i>-related neurodevelopmental disordersIlaria Parenti, Elsa Leitão, Alma Kuechler, et al.Nature Communications|March 30, 2026
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtypeIlaria Parenti, Alina Hesters, Marta Gil-Salvador, et al.Pageof 11