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Genes|April 30, 2021
Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New CasesPierpaola Tannorella, Daniele Minervino, Sara Guzzetti, et al.Italian Journal of Pediatrics|November 24, 2020
Children with special health care needs attending emergency department in Italy: analysis of 3479 casesPaola Cianci, Valeria D'Apolito, Alex Moretti, et al.Epigenetics|August 7, 2013
Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndromeMariarosaria Calvello, Silvia Tabano, Patrizia Colapietro, et al.Frontiers in Genetics|November 22, 2019
Molecular Etiology Disclosed by Array CGH in Patients With Silver-Russell Syndrome or Similar PhenotypesMilena Crippa, Maria Teresa Bonati, Luciano Calzari, et al.American Journal of Medical Genetics. Part A|January 25, 2014
Behavioral profile in RASopathiesPaolo Alfieri, Giorgia Piccini, Cristina Caciolo, et al.Journal of Cellular Physiology|July 25, 2015
CyclinD1 Down-Regulation and Increased Apoptosis Are Common Features of CohesinopathiesGrazia Fazio, Carles Gaston-Massuet, Laura Rachele Bettini, et al.American Journal of Medical Genetics. Part A|November 24, 2022
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from ItalyDaniela Pasquali, Annalaura Torella, Anna Grandone, et al.BMC Medical Genetics|October 21, 2006
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patientsAngela Bentivegna, Donatella Milani, Cristina Gervasini, et al.American Journal of Human Genetics|June 12, 2002
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocationSabrina Giglio, Vladimiro Calvari, Giuliana Gregato, et al.Cell Death Discovery|February 18, 2021
Lithium as a possible therapeutic strategy for Cornelia de Lange syndromePaolo Grazioli, Chiara Parodi, Milena Mariani, et al.Pageof 19