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Genes|August 6, 2021
Cornelia de Lange Syndrome: From a Disease to a Broader SpectrumAngelo Selicorni, Milena Mariani, Antonella Lettieri, et al.Clinical Dysmorphology|January 14, 2020
Haploinsufficiency of AKT3 gene causing microcephaly and psychomotor delay in a patient with 1q43q44 microdeletionAlessandra Pelle, Piergiorgio Modena, Anna Cavallini, et al.Human Genetics|January 26, 2002
Cytogenetic mapping of a novel locus for type II Waardenburg syndromeAngelo Selicorni, Silvana Guerneri, Antonia Ratti, et al.American Journal of Medical Genetics. Part A|April 21, 2004
Two new cases of Barraquer-Simons syndromeA Ferrarini, D Milani, M Bottigelli, et al.Pediatric Neurology|May 4, 2005
Another patient with MECP2 mutation without classic Rett syndrome phenotypeDonatella Milani, Chiara Pantaleoni, Stefano D'Arrigo, et al.Clinical Dysmorphology|October 21, 2020
A novel HIST1HE pathogenic variant in a girl with macrocephaly and intellectual disability: a new case and review of literatureAlessandra Pelle, Laura Pezzoli, Erika Apuril, et al.Journal of Child Neurology|August 24, 2007
Craniodigital syndrome of Scott: clinical and neuroradiological features of a new caseDonatella Milani, Stefano D'Arrigo, Alessandra Erbetta, et al.American Journal of Medical Genetics. Part A|May 28, 2016
Temporomandibular joint ankylosis as part of the clinical spectrum of Carey-Fineman-Ziter syndrome?Martina Pasetti, Fabio Mazzoleni, Giorgio Novelli, et al.Journal of Child Neurology|December 13, 2006
De novo duplication of chromosome 13(q32-q34) in a child with developmental delayDonatella Milani, Stefano D'Arrigo, Silvana Guerneri, et al.American Journal of Medical Genetics. Part A|December 4, 2004
Additional case of Tsukahara's syndrome or new syndrome: further delineation of the association of microcephaly and radio-ulnar synostosisAngelo Selicorni, Alessandra Ferrarini, Giacomo Cagnoli, et al.Pageof 19