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Frontiers in Cell and Developmental Biology|August 28, 2020
Olfactory Malformations in Mendelian Disorders of the Epigenetic MachinerySebastiano Aleo, Claudia Cinnante, Sabrina Avignone, et al.
BMC Medical Genetics|April 5, 2013
Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndromeCristina Gervasini, Chiara Picinelli, Jacopo Azzollini, et al.
Molecular Genetics and Metabolism|July 31, 2012
Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndromeManuela Priolo, Lucia Micale, Bartolomeo Augello, et al.
American Journal of Medical Genetics. Part A|October 15, 2013
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrumCristina Gervasini, Silvia Russo, Anna Cereda, et al.
International Journal of Molecular Sciences|February 2, 2018
Rings and Bricks: Expression of Cohesin Components is Dynamic during Development and Adult LifeLaura Rachele Bettini, Federica Graziola, Grazia Fazio, et al.
American Journal of Medical Genetics. Part A|May 22, 2020
Nissen fundoplication in Cornelia de Lange syndrome spectrum: Who are the potential candidates?Barbara Parma, Paola Cianci, Milena Mariani, et al.
American Journal of Medical Genetics. Part A|November 14, 2022
The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal studyPaola Francesca Ajmone, Ludovica Giani, Beatrice Allegri, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|May 3, 2016
Sleep disorders in Cornelia de Lange syndromeElena Zambrelli, Chiara Fossati, Katherine Turner, et al.
European Journal of Human Genetics : EJHG|February 23, 2012
Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patientsSilvia Russo, Maura Masciadri, Cristina Gervasini, et al.
American Journal of Medical Genetics. Part A|February 29, 2024
SMC1A epilepsy syndrome: clinical data from a large international cohortElisabetta Gibellato, Paola Cianci, Milena Mariani, et al.
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