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Molecular Cytogenetics|April 4, 2015
Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndromeMilena Crippa, Daniela Rusconi, Chiara Castronovo, et al.
European Journal of Medical Genetics|November 6, 2016
Williams syndrome and mature B-Leukemia: A random association?Valentina Decimi, Grazia Fazio, Fabiola Dell'Acqua, et al.
JACC. Case Reports|October 3, 2024
Coronary Artery Aneurysm Thrombosis Causing Acute Myocardial Infarction in an Adolescent With Neurofibromatosis Type 1Filippo Russo, Alessandro Beneduce, Barbara Parma, et al.
American Journal of Medical Genetics. Part A|October 31, 2009
Clinical problems and everyday abilities of a group of Italian adolescent and young adults with Cornelia de Lange syndromeGiovanna Olioso, Alice Passarini, Francesca Atzeri, et al.
European Journal of Medical Genetics|October 26, 2010
Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literatureLucia Ballarati, Anna Cereda, Rossella Caselli, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|August 24, 2012
The association of neural axis and craniovertebral junction anomalies with scoliosis in Rubinstein-Taybi syndromeCarlo Giussani, Angelo Selicorni, Chiara Fossati, et al.
Clinical Dysmorphology|August 31, 2010
Nicolaides-Baraitser syndrome: two new cases with autism spectrum disorderSimone Gana, Michela Panizzon, Daniela Fongaro, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|April 8, 2014
Communication, cognitive development and behavior in children with Cornelia de Lange Syndrome (CdLS): preliminary resultsPaola Francesca Ajmone, Claudia Rigamonti, Francesca Dall'Ara, et al.
Pediatrics|April 23, 2014
Hemostatic abnormalities in Noonan syndromeAndrea Artoni, Angelo Selicorni, Serena M Passamonti, et al.
American Journal of Human Genetics|February 4, 2003
Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2Marcella Zollino, Rosetta Lecce, Rita Fischetto, et al.
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