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European Journal of Human Genetics : EJHG|October 22, 2009
Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosisLucia Micale, Maria Giuseppina Turturo, Carmela Fusco, et al.Journal of Medical Genetics|July 5, 2005
Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletionsC Howald, G Merla, M C Digilio, et al.Endocrinology|January 19, 2008
Biochemical and structural characterization of apolipoprotein A-I binding protein, a novel phosphoprotein with a potential role in sperm capacitationKula N Jha, Igor A Shumilin, Laura C Digilio, et al.Cytogenetic and Genome Research|October 30, 2018
First Report of Low-Rate Mosaicism for 20q11.21q12 Deletion and Delineation of the Associated DisorderSara Loddo, Viola Alesi, Silvia Genovese, et al.Journal of Human Genetics|May 17, 2022
Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed caseAnnalisa Paparella, Gabriella Maria Squeo, Eleonora Di Venere, et al.American Journal of Medical Genetics. Part A|May 2, 2022
Crossed pulmonary arteries: An underestimated cardiovascular variant with a strong association with genetic syndromes-A report of 74 cases with systematic review of the literatureGioia Mastromoro, Giulio Calcagni, Walter Vignaroli, et al.Clinical Genetics|September 14, 2017
Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and reviewE Agolini, M L Dentici, E Bellacchio, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|October 18, 2017
Psychopathological features in Noonan syndromeFrancesca Perrino, Serena Licchelli, Giulia Serra, et al.American Journal of Medical Genetics. Part A|August 2, 2019
SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature reviewAnwar Baban, Nicole Olivini, Francesca Romana Lepri, et al.Chembiochem : a European Journal of Chemical Biology|March 5, 2003
NMR structure of the single QALGGH zinc finger domain from the Arabidopsis thaliana SUPERMAN proteinCarla Isernia, Enrico Bucci, Marilisa Leone, et al.Pageof 56